Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

European Journal of Human Genetics

Volumn 22, Issue 9, 2014, Pages 1105-1110

  Wang, Xue ^a   Xin, Qian ^a   Li, Lin ^b   Li, Jiangxia ^a   Zhang, Changwu ^c   Qiu, Rongfang ^a   Qian, Chenmin ^d   Zhao, Hailing ^a   Liu, Yongchao ^a   Shan, Shan ^a   Dang, Jie ^a   Bian, Xianli ^a   Shao, Changshun ^a   Gong, Yaoqin ^a   Liu, Qiji ^a  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b LINYI PEOPLE'S HOSPITAL   (China)

^c Department of Orthopedics Cangshan People's Hospital   (China)

^d UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

DLX5; gene mutation; SHFM1

Indexed keywords

GLUTAMINE; HISTIDINE; LUCIFERASE; MYC PROTEIN; TRANSCRIPTION FACTOR DLX5; DLX5 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHINESE; CHROMOSOME 7Q; CLINICAL ARTICLE; DLX5 GENE; ECTRODACTYLY; EMBRYO; FAMILY; FEMALE; GENE; GENE LOCUS; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HEK293 CELL LINE; HELA CELL LINE; HETEROZYGOTE; HUMAN; HUMAN CELL; LUCIFERASE ASSAY; MALE; MISSENSE MUTATION; MOTHER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SON; SYNDACTYLY; THUMB MALFORMATION; TRANSCRIPTION INITIATION; WHOLE EXOME SEQUENCING; ADULT; AMINO ACID SEQUENCE; CHILD; DOMINANT GENE; EXOME; FOOT DEFORMITIES, CONGENITAL; GENETICS; HAND DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; METABOLISM; MOLECULAR GENETICS; PEDIGREE;

ADULT; AMINO ACID SEQUENCE; CHILD; EXOME; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENES, DOMINANT; HAND DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; HEK293 CELLS; HELA CELLS; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 84906263906     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.7     Document Type: Article

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