A locus for ophthalmo-acromelic syndrome mapped to 10p11.23-Reference-Cited by-同舟云学术

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

Published:2009-03 Issue:3 Volume:149A Page:336-342
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hamanoue Haruka,Megarbane Andre,Tohma Takaya,Nishimura Akira,Mizuguchi Takeshi,Saitsu Hirotomo,Sakai Haruya,Miura Shoko,Toda Tatsushi,Miyake Noriko,Niikawa Norio,Yoshiura Koichiro,Hirahara Fumiki,Matsumoto Naomichi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Microphthalmia and distal limb abnormalities in a child of consanguineous parents;al Gazali;Clin Dysmorphol,1994

2. Ophthalmo-acromelic syndrome in a Turkish infant: Case report;Caksen;East Afr Med J,2002

3. Waardenburg anophthalmia syndrome: Report and review;Cogulu;Am J Med Genet,2000

4. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): Report of a new Italian case with renal anomaly and review;Garavelli;Genet Couns,2006

5. Allegro, a new computer program for multipoint linkage analysis;Gudbjartsson;Nat Genet,2000

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1. Ophthalmo-acromelic syndrome in an infant;European Journal of Medical Genetics;2019-07

2. A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome;European Journal of Medical Genetics;2017-11

3. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome;Ophthalmic Genetics;2017-01-13

4. Whole-exome sequencing identified a homozygousFNBP4mutation in a family with a condition similar to microphthalmia with limb anomalies;American Journal of Medical Genetics Part A;2013-05-23

5. Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density;Human Molecular Genetics;2011-12-13