A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 744-748

  Wilkes, D ^a   Rutland, P ^a   Pulleyn, L J ^a   Reardon, W ^a   Moss, C ^b   Ellis, J P ^c   Winter, R M ^a   Malcolm, S ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c PRINCESS MARGARET HOSPITAL   (United Kingdom)

Author keywords

Acanthosis nigricans; Crouzon syndrome; Fibroblast growth factor receptor 3 (FGFR3)

Indexed keywords

ALANINE; FIBROBLAST GROWTH FACTOR RECEPTOR; GLUTAMIC ACID;

ACANTHOSIS NIGRICANS; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CONTROLLED STUDY; CRANIAL SUTURE; CROUZON SYNDROME; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; PIGMENT DISORDER; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 0029780070     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.744     Document Type: Article

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