Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome-Reference-Cited by-同舟云学术

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Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

Published:1995-10-01 Issue:10 Volume:32 Page:816-818
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Dallapiccola B.,Mingarelli R.

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference3 articles.

1. Dysmorphia otofacio-cervicalis familiaris;Fara, M.; Chlupackova, V.; Hrivnakova, J.;Acta Chir Plast,1967

2. Mendelian inheritance in man;McKusick, V.A.,1994

3. Hereditary heaing loss and its syndromes;Gorlin, R.J.; Toriello, H.V.; Cohen, M.M.,1995

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome;Frontiers in Genetics;2019-07-18

2. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene;American Journal of Medical Genetics Part A;2018-04-21

3. Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders;International Journal of Pediatric Otorhinolaryngology;2016-06

4. Phenotypes of 8q13.2-q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome;American Journal of Medical Genetics Part A;2015-12-10

5. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome;Human Genetics;2013-07-13

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