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Items: 3

1.
Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH
Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, Jun Mitsui, Hiroya Naruse, Shin‐ichi Tokushige, Kazuma Sugie, Genshu Tate, Jun Shimizu, Jun Goto, Shoji Tsuji, Yasushi Shiio
Ann Clin Transl Neurol. 2017 Jun; 4(6): 415–421. Published online 2017 May 22. doi: 10.1002/acn3.417
PMCID:
PMC5454394
AbstractArticlePDF–438K
2.
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing
Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M. Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort
J Clin Endocrinol Metab. 2015 Jul; 100(7): E1022–E1029. Published online 2015 Apr 30. doi: 10.1210/jc.2015-1314
PMCID:
PMC4490300
AbstractArticle
3.
A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy
Fujio Umehara, Genshu Tate, Kayoko Itoh, Naoki Yamaguchi, Tsutomu Douchi, Toshiyuki Mitsuya, Mitsuhiro Osame
Am J Hum Genet. 2000 Nov; 67(5): 1302–1305. Published online 2000 Oct 2. doi: 10.1016/s0002-9297(07)62958-9
PMCID:
PMC1288570
AbstractArticlePDF–741K

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