Delineating the phenotypic spectrum of Bainbridge- Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Journal of Medical Genetics

Volumn 54, Issue 8, 2017, Pages 537-543

  Balasubramanian, Meena ^a   Willoughby, J ^a   Fry, A E ^b,c   Weber, A ^d   Firth, H V ^e   Deshpande, C ^f   Berg, J N ^g   Chandler, K ^h,i   Metcalfe, K A ^h,i   Lam, W ^j   Pilz, D T ^k   Tomkins, S ^l  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^g UNIVERSITY OF DUNDEE   (United Kingdom)

^h ST MARY S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j WESTERN GENERAL HOSPITAL   (United Kingdom)

^k West of Scotland Regional Genetics Service   (United Kingdom)

^l UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^m WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

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Author keywords

[No Author keywords available]

Indexed keywords

ADDITIONAL SEX COMB LIKE 3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ASXL3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; AUTISM; BAINBRIDGE ROPERS SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EYEBROW; FACE DEFORMITY; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FOREHEAD; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HETEROZYGOTE; HUMAN; HYPERTELORISM; IMAGE ANALYSIS; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MUSCLE HYPOTONIA; PALATE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPEECH DELAY; WHOLE EXOME SEQUENCING; YOUNG ADULT; CASE REPORT; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

ADULT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; LOSS OF FUNCTION MUTATION; MALE; PHENOTYPE; TRANSCRIPTION FACTORS; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85011072537     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104360     Document Type: Article

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