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
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Tibia
/
Limb Deformities, Congenital
/
Genes, Duplicate
/
Basic Helix-Loop-Helix Transcription Factors
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
2014
Document type:
Article