Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
Clin Genet
; 85(5): 464-9, 2014 May.
Article
em En
| MEDLINE
| ID: mdl-23790188
ABSTRACT
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.
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Base de dados:
MEDLINE
Assunto principal:
Tíbia
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Deformidades Congênitas dos Membros
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Genes Duplicados
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Fatores de Transcrição Hélice-Alça-Hélice Básicos
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article