Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 36-41

  Howard, Timothy D ^a   Paznekas, William A ^b   Green, Eric D ^c   Chiang, Lydia C ^d   Ma, Nancy ^e   De Luna, Rosa Isela Ortiz ^a   Delgado, Costanza Garcia ^b   Gonzalez Ramos, Mario ^c   Kline, Antoine D ^d   Jabs, Ethylin Wang ^d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Center for Medical Genetics   (United States)

^c GcnomeTlicrapciitics Corporation   (United States)

^d HOSPITAL INFANTIL DE MÉXICO FEDERICO GÓMEZ   (Mexico)

^e SINAI HOSPITAL OF BALTIMORE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR; HELIX LOOP HELIX PROTEIN; TRANSCRIPTION FACTOR;

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 7P; CHROMOSOME MAP; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DELETION MUTANT; DNA BINDING; DNA FLANKING REGION; GENE MAPPING; GENE MUTATION; LIMB MALFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW;

ACROCEPHALOSYNDACTYLIA; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; FEMALE; HELIX-LOOP-HELIX MOTIFS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 0031021336     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-36     Document Type: Review

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