ロード中...
A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family
Split hand/split foot malformation (SHFM) or ectrodactyly is characterized by a deep median cleft of the hand or foot, hypoplasia or aplasia of the metacarpals, metatarsals, and phalanges. It is a clinically and genetically heterogeneous group of limb malformations. This study aimed to identify the...
保存先:
| 出版年: | Front Pediatr |
|---|---|
| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6970189/ https://ncbi.nlm.nih.gov/pubmed/31998667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00526 |
| 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!
|