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A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

DiGeorge syndrome (DGS), a developmental field defect of the third and fourth pharyngeal pouches, is characterized by aplasia or hypoplasia of the thymus and parathyroid glands and by conotruncal cardiac malformations. Cytogenetic studies support the presence of a DGS critical region in band 22q11....

詳細記述

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書誌詳細
主要な著者: Driscoll, D A, Budarf, M L, Emanuel, B S
フォーマット: Artigo
言語:Inglês
出版事項: 1992
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682598/
https://ncbi.nlm.nih.gov/pubmed/1349199
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