Novel heterozygous frameshift mutation in distal-less homeobox 5 underlies isolated split hand/foot malformation type 1

Pediatrics International

Volumn 58, Issue 12, 2016, Pages 1348-1350

  Ullah, Asmat ^a   Ullah, Muhammad Farhat ^b   Khalid, Zafar Mahmood ^b   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b INTERNATIONAL ISLAMIC UNIVERSITY   (Pakistan)

Author keywords

autosomal dominant; distal less homeobox 5; frameshift variant; Sanger sequencing; split hand foot malformation

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ABERRATION; CODON; DLX5 GENE; ECTRODACTYLY; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENETIC VARIATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOTE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 85006856444     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.13023     Document Type: Note

References (5)

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