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Items: 1 to 20 of 48

1.
An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
Ital J Pediatr. 2018; 44: 138. Published online 2018 Nov 20. doi: 10.1186/s13052-018-0580-z
PMCID:
PMC6245908
AbstractArticlePDF–1.9M
2.
A family with diaphyseal aclasis and peripheral dysostosis.
A P Brooks, R Wynne-Davies
J Med Genet. 1980 Aug; 17(4): 277–280. doi: 10.1136/jmg.17.4.277
PMCID:
PMC1048569
SummaryPage BrowsePDF–1.3M
3.
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.
T Cai, D A Tagle, X Xia, P Yu, X X He, L Y Li, J H Xia
J Med Genet. 1997 Sep; 34(9): 772–776. doi: 10.1136/jmg.34.9.772
PMCID:
PMC1051066
SummaryPage BrowsePDF–1.2M
4.
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report
Lili Feng, Ying Li, Ying Li, Yujie Jiang, Na Wang, Dai Yuan, Juan Fan
Medicine (Baltimore) 2018 Sep; 97(36): e12214. Published online 2018 Sep 7. doi: 10.1097/MD.0000000000012214
PMCID:
PMC6133617
AbstractArticlePDF–538K
5.
Brachydactyly
Samia A Temtamy, Mona S Aglan
Orphanet J Rare Dis. 2008; 3: 15. Published online 2008 Jun 13. doi: 10.1186/1750-1172-3-15
PMCID:
PMC2441618
AbstractArticlePDF–4.9M
6.
SOFT syndrome with Kohlschutter–Tonz syndrome
SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar
J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22
PMCID:
PMC10947733
AbstractArticle
7.
Pycnodysostosis with novel gene mutation and sporadic medullary thyroid carcinoma: A case report
Xiulin Shi, Caoxin Huang, Fangsen Xiao, Wei Liu, Jinyang Zeng, Xuejun Li
Medicine (Baltimore) 2017 Dec; 96(50): e8730. Published online 2017 Dec 15. doi: 10.1097/MD.0000000000008730
PMCID:
PMC5815678
AbstractArticlePDF–599K
8.
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report
Yang-Fan Qi, Xiaoping Ma, Shuang-Zhu Lin, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Li Liu
Medicine (Baltimore) 2023 Dec 22; 102(51): e36357. Published online 2023 Dec 22. doi: 10.1097/MD.0000000000036357
PMCID:
PMC10735150
AbstractArticlePDF–1.4M
9.
Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review
Lifang Liu, Junsheng Li, Jiarui Li, Hui Hu, Jiao Liu, Ping Tang
Medicine (Baltimore) 2023 Oct 13; 102(41): e35471. Published online 2023 Oct 13. doi: 10.1097/MD.0000000000035471
PMCID:
PMC10578768
AbstractArticlePDF–1.4M
10.
A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
Mohan Liu, Xueguang Zhang, Hongqian Liu, Ying Shen
Mol Genet Genomic Med. 2020 Sep; 8(9): e1392. Published online 2020 Jun 25. doi: 10.1002/mgg3.1392
PMCID:
PMC7507485
AbstractArticlePDF–500K
11.
Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome
Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray, Antonio Richieri-Costa
Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 26.
Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 2003–2008. Published online 2012 Jun 27. doi: 10.1002/ajmg.a.35454
PMCID:
PMC3724514
AbstractArticlePDF–1.2M
12.
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy
Leen Abu Safieh, Humoud M. Al-Otaibi, Richard Alan Lewis, Igor Kozak
Middle East Afr J Ophthalmol. 2016 Jan-Mar; 23(1): 139–141. doi: 10.4103/0974-9233.171779
PMCID:
PMC4759893
AbstractArticle
13.
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
Lyn S Chitty, Asma Khalil, Angela N Barrett, Eva Pajkrt, David R Griffin, Tim J Cole
Prenat Diagn. 2013 May; 33(5): 416–423. Published online 2014 Aug 7. doi: 10.1002/pd.4066
PMCID:
PMC4166694
AbstractArticlePDF–291K
14.
12例努南综合征患儿的临床特征及重组人生长激素疗效观察
Huakun SHANGGUAN, Yuanbin XU, Ruimin CHEN
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 500–505. Chinese. doi: 10.3724/zdxbyxb-2021-0263
PMCID:
PMC8714484
AbstractArticlePDF–2.1M
15.
Thanatophoric Dysplasia: A Case Report
Manisha Sharma, Jyoti, Rekha Jain, Devendra
J Clin Diagn Res. 2015 Nov; 9(11): QD01–QD03. Published online 2015 Nov 1. doi: 10.7860/JCDR/2015/13201.6702
PMCID:
PMC4668482
AbstractArticlePDF–741K
16.
Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child
Sajid Malik, Muhammad Afzal
J Res Med Sci. 2013 Sep; 18(9): 818–821.
PMCID:
PMC3872594
AbstractArticlePDF–730K
17.
Case Report: 35-Year Follow-up for Nonvascularized Toe Phalangeal Transfer for Multiple Digit Symbrachydactyly
Sanjay Naran, Joseph E. Imbriglia
Hand (N Y) 2016 Dec; 11(4): NP38–NP40. Published online 2016 Jul 28. doi: 10.1177/1558944716658748
PMCID:
PMC5256662
AbstractArticlePDF–297K
18.
A congenital cranial dysinnervation disorder: Möbius’ syndrome
Hatice Mutlu Albayrak, Nuriye Tarakçı, Hüseyin Altunhan, Rahmi Örs, Hüseyin Çaksen
Turk Pediatri Ars. 2017 Sep; 52(3): 165–168. Published online 2017 Sep 1. doi: 10.5152/TurkPediatriArs.2017.2931
Correction in:
Turk Pediatri Ars. 2017 Dec; 52(4): 246.
PMCID:
PMC5644584
AbstractArticlePDF–543K
19.
Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy
Saurabh Kamat, Kannan Sankar, Natt Janakiraman Eswari, Vikas Gahlawat, Bernard Nithin Joseph Jude, Anjna Negi
J Nat Sci Biol Med. 2015 Jul-Dec; 6(2): 464–467. doi: 10.4103/0976-9668.160043
PMCID:
PMC4518435
AbstractArticlePDF–1.4M
20.
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
Mingran Sun, Han Zhang, Guiying Li, Xianfu Wang, Xianglan Lu, Andrea Sternenberger, Carrie Guy, Wenfu Li, Jiyun Lee, Lei Zheng, Shibo Li
Mol Cytogenet. 2014; 7: 76. Published online 2014 Nov 25. doi: 10.1186/s13039-014-0076-5
PMCID:
PMC4260201
AbstractArticlePDF–1.3M

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