ロード中...

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

BACKGROUND—We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous sys...

詳細記述

保存先:
書誌詳細
主要な著者: Bayoumi, R., Saar, K., Lee, Y., Nurnberg, G., Reis, A., Nur-E-Kamal, M., Al-Gazali, L.
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2001
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734894/
https://ncbi.nlm.nih.gov/pubmed/11389160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.6.369
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!