A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

Clinical Dysmorphology

Volumn 15, Issue 2, 2006, Pages 89-93

  McGaughran, Julie ^a   Sinnott, Stephen ^b   Susman, Rachel ^a   Buckley, Michael F ^c,d   Elakis, George ^c   Cox, Timothy ^e,f   Roscioli, Tony ^d,g  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c PRINCE OF WALES HOSPITAL   (Australia)

^d UNIVERSITY OF NEW SOUTH WALES   (Australia)

^e Australian Craniofacial Unit   (Australia)

^f MONASH UNIVERSITY   (Australia)

^g ROYAL PRINCE ALFRED HOSPITAL   (Australia)

Author keywords

Beare Stevenson; FGFR2 mutation; Phenotype

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ARTICLE; BEARE STEVENSON SYNDROME; CASE REPORT; CHILD; CHOANA ATRESIA; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPOSPADIAS; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATERNAL AGE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SCROTUM DISORDER; SKIN MALFORMATION;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; FACE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SACRUM; SYNDROME;

EID: 33749236963     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000194407.92676.9d     Document Type: Article

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