Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2564-2575

  Hildebrand, Michael S ^a   De Silva, Michelle G ^b   Tiong, Yang Tan ^b,c   Rose, Elizabeth ^c   Nishimura, Carla ^a   Tolmachova, Tanya ^d   Hulett, Joanne M ^e   White, Susan M ^b,c   Silver, Jeremy ^f   Bahlo, Melanie ^f   Smith, Richard J H ^a,g   Dahl, Hans Henrik M ^b,c  

^a UNIVERSITY OF IOWA   (United States)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^g UNIVERSITY OF IOWA   (United States)

Author keywords

CHM gene; Developmental delay; POU3F4 deletion; Sensorineural hearing loss; X linked syndrome

Indexed keywords

CYSTEINE; GENE PRODUCT; RAB ESCORT 1 PROTEIN; RAB PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHOROIDEREMIA; CLINICAL ASSESSMENT; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DNA POLYMORPHISM; FAMILY HISTORY; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; MENTAL DEFICIENCY; MISSENSE MUTATION; MOHR TRANEBJAERG SYNDROME; MOLECULAR GENETICS; NORRIE DISEASE; PERCEPTION DEAFNESS; PRENYLATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POU DOMAIN FACTORS; PROTEIN PRENYLATION;

EID: 35848964818     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31995     Document Type: Article

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