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Deletion of chromosome 13 in Moebius syndrome.

A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrom...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Slee, J J, Smart, R D, Viljoen, D L
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016909/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1870098/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.6.413
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