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Items: 1 to 20 of 139

1.
Disproportionate short stature after cranial irradiation and combination chemotherapy for leukaemia.
H A Davies, E Didcock, M Didi, A Ogilvy-Stuart, J K Wales, S M Shalet
Arch Dis Child. 1994 Jun; 70(6): 472–475. doi: 10.1136/adc.70.6.472
PMCID:
PMC1029863
SummaryPage BrowsePDF–797K
2.
Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature
E. Melissa Perez-Garcia, Philip Whalen, Nursen Gurtunca
AACE Clin Case Rep. 2022 Mar-Apr; 8(2): 89–92. Published online 2021 Nov 24. doi: 10.1016/j.aace.2021.11.003
PMCID:
PMC8984529
AbstractArticlePDF–933K
3.
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias
Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik
Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003
PMCID:
PMC10524810
AbstractArticlePDF–1.8M
4.
PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations
Wilma Oostdijk, Jan Idkowiak, Jonathan W. Mueller, Philip J. House, Angela E. Taylor, Michael W. O'Reilly, Beverly A. Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W. E. Santen, Annemieke J. M. H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt
J Clin Endocrinol Metab. 2015 Apr; 100(4): E672–E680. Published online 2015 Jan 16. doi: 10.1210/jc.2014-3556
PMCID:
PMC4399300
AbstractArticle
5.
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.
K D MacDermot, M A Patton, M J Williams, R M Winter
J Med Genet. 1989 Jun; 26(6): 382–385. doi: 10.1136/jmg.26.6.382
PMCID:
PMC1015623
SummaryPage BrowsePDF–831K
6.
软骨发育不全患儿的临床特征及FGFR3基因变异分析
张 惠琴, 陶 东英, 张 静静, 牛 焕红, 罗 建峰, 成 胜权
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Apr 15; 24(4): 405–410. Chinese. doi: 10.7499/j.issn.1008-8830.2111039
PMCID:
PMC9044984
AbstractArticlePDF–630K
7.
Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology
Karen L. Posey, Francoise Coustry, Alka C. Veerisetty, Mohammad Hossain, Danielle Gattis, Sheri Booten, Joseph L. Alcorn, Punit P. Seth, Jacqueline T. Hecht
Mol Ther. 2017 Mar 1; 25(3): 705–714. Published online 2017 Feb 3. doi: 10.1016/j.ymthe.2016.12.024
PMCID:
PMC5363192
AbstractArticlePDF–2.2M
8.
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies
Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas, Juan Llerena, Jr
Orphanet J Rare Dis. 2022; 17: 4. Published online 2022 Jan 4. doi: 10.1186/s13023-021-02142-3
PMCID:
PMC8728937
AbstractArticlePDF–2.5M
9.
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US
Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, John McGready
Orphanet J Rare Dis. 2021; 16: 522. Published online 2021 Dec 23. doi: 10.1186/s13023-021-02141-4
PMCID:
PMC8697459
AbstractArticlePDF–11M
10.
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F. A. Funari, Karen E. Heath, Alexander A. L. Jorge, Tracey Kurtzman, Stephen LaFranchi, Seema Lalani, Jan Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, Catherine Nowak, Micah Olson, Jadranka Popovic, Štěpánka Průhová, Lenka Elblova, Jose Bernardo Quintos, Emma Segerlund, Lucia Sentchordi, Marwan Shinawi, Eva-Lena Stattin, Jonathan Swartz, Ariadna González del Angel, Sinhué Diaz Cuéllar, Hidekazu Hosono, Pedro A. Sanchez-Lara, Vivian Hwa, Jeffrey Baron, Ola Nilsson, Andrew Dauber
J Clin Endocrinol Metab. 2017 Feb 1; 102(2): 460–469. Published online 2016 Nov 21. doi: 10.1210/jc.2016-3313
PMCID:
PMC5413162
AbstractArticle
11.
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome
Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E. Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz
Am J Case Rep. 2017; 18: 1325–1329. Published online 2017 Dec 12. doi: 10.12659/AJCR.905976
PMCID:
PMC5737115
AbstractArticlePDF–4.4M
12.
Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
Kan Wu, Zhumei Li, Yuhua Zhu, Xiaocheng Wang, Guohui Chen, Zhaohui Hou, Qiujing Zhang
BMC Med Genomics. 2021; 14: 170. Published online 2021 Jun 28. doi: 10.1186/s12920-021-01020-y
PMCID:
PMC8240210
AbstractArticlePDF–1.5M
13.
Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase
Ao Zhang, Aarya Venkat, Rahil Taujale, James L. Mull, Atsuko Ito, Natarajan Kannan, Robert S. Haltiwanger
J Biol Chem. 2021 Jul; 297(1): 100843. Published online 2021 May 28. doi: 10.1016/j.jbc.2021.100843
PMCID:
PMC8233153
AbstractArticlePDF–1.5M
14.
Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
Mossa N.A. Al Motawa, Manal S.S. Al Shehri, Majed J. Al Buali, Amnah A.M. Al Agnam
Am J Case Rep. 2021; 22: e930824-1–e930824-8. Published online 2021 May 31. doi: 10.12659/AJCR.930824
PMCID:
PMC8175056
AbstractArticlePDF–2.2M
15.
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Eur J Hum Genet. 2018 Mar; 26(3): 350–358. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0080-4
PMCID:
PMC5839025
AbstractArticlePDF–728K
16.
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication
Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling
Eur J Hum Genet. 2018 Sep; 26(9): 1288–1293. Published online 2018 Jun 11. doi: 10.1038/s41431-018-0166-7
PMCID:
PMC6117264
AbstractArticlePDF–4.7M
17.
A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang
Biomed Res Int. 2021; 2021: 6678531. Published online 2021 Mar 8. doi: 10.1155/2021/6678531
PMCID:
PMC7960025
AbstractArticlePDF–1.1M
18.
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review
Guixiang Yao, Guangxin Wang, Dawei Wang, Guohai Su
Medicine (Baltimore) 2019 Jan; 98(4): e14157. Published online 2019 Jan 25. doi: 10.1097/MD.0000000000014157
PMCID:
PMC6358355
AbstractArticlePDF–728K
19.
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
J Clin Res Pediatr Endocrinol. 2020 Dec; 12(4): 358–365. Published online 2020 Nov 25. doi: 10.4274/jcrpe.galenos.2020.2019.0001
PMCID:
PMC7711637
AbstractArticlePDF–711K
20.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Lindsay C. Burrage, John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, Audrey E. Christiansen, Denise G. Lanza, John R. Seavitt, Mahim Jain, Xiaohui Li, David A. Parry, Vandana Raman, David Chitayat, Ivan K. Chinn, Alison A. Bertuch, Lefkothea Karaviti, Alan E. Schlesinger, Dawn Earl, Michael Bamshad, Ravi Savarirayan, Harsha Doddapaneni, Donna Muzny, Shalini N. Jhangiani, Christine M. Eng, Richard A. Gibbs, Weimin Bi, Lisa Emrick, Jill A. Rosenfeld, John Postlethwait, Monte Westerfield, Mary E. Dickinson, Arthur L. Beaudet, Emmanuelle Ranza, Celine Huber, Valérie Cormier-Daire, Wei Shen, Rong Mao, Jason D. Heaney, Jordan S. Orange, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Débora Bertola, Guilherme L. Yamamoto, Wagner A.R. Baratela, Merlin G. Butler, Asim Ali, Mehdi Adeli, Daniel H. Cohn, Deborah Krakow, Andrew P. Jackson, Melissa Lees, Amaka C. Offiah, Colleen M. Carlston, John C. Carey, Grant S. Stewart, Carlos A. Bacino, Philippe M. Campeau, Brendan Lee
Am J Hum Genet. 2019 Mar 7; 104(3): 422–438. Published online 2019 Feb 14. doi: 10.1016/j.ajhg.2019.01.007
PMCID:
PMC6408318
AbstractArticlePDF–1.9M

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