A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome

American Journal of Human Genetics

Volumn 98, Issue 6, 2016, Pages 1256-1265

  Twigg, Stephen R F ^a   Hufnagel, Robert B ^b   Miller, Kerry A ^a   Zhou, Yan ^a   McGowan, Simon J ^a   Taylor, John ^c,d   Craft, Jude ^c   Taylor, Jenny C ^c,e   Santoro, Stephanie L ^b   Huang, Taosheng ^b   Hopkin, Robert J ^b   Brady, Angela F ^f   Clayton Smith, Jill ^g   Clericuzio, Carol L ^h   Grange, Dorothy K ⁱ   Groesser, Leopold ^j   Hafner, Christian ^j   Horn, Denise ^k   Temple, I Karen ^l,m   Dobyns, William B ⁿ   Curry, Cynthia J ^o   Jones, Marilyn C ^p   Wilkie, Andrew O M ^a   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^f NORTHWICK PARK HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF REGENSBURG   (Germany)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^m PRINCESS ANNE HOSPITAL   (United Kingdom)

ⁿ SEATTLE CHILDREN S HOSPITAL   (United States)

^o UNIVERSITY OF CALIFORNIA   (United States)

^p RADY CHILDREN'S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; SMOOTHENED PROTEIN; SMO PROTEIN, HUMAN;

ALLELE; AMELOBLASTOMA; AMINO ACID SUBSTITUTION; ARTICLE; BASAL CELL CARCINOMA; BRAIN MALFORMATION; CARCINOGENESIS; CHILD; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; CURRY JONES SYNDROME; DEVELOPMENTAL DISORDER; EYE MALFORMATION; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MEDULLOBLASTOMA; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SKIN MALFORMATION; SOMATIC MUTATION; ABNORMALITIES; CRANIOFACIAL ABNORMALITIES; GENETICS; INTESTINE; MUTATION; PATHOLOGY; SKIN ABNORMALITIES; SYNDACTYLY;

CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTESTINES; MALE; MUTATION; SIGNAL TRANSDUCTION; SKIN ABNORMALITIES; SMOOTHENED RECEPTOR; SYNDACTYLY;

EID: 84970016028     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.04.007     Document Type: Article

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