A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

Clinical Genetics

Volumn 74, Issue 5, 2008, Pages 434-444

  Day, Ruth ^a   Beckett, B ^b   Donnai, D ^b   Fryer, A ^a   Heidenblad, M ^c   Howard, P ^d   Kerr, B ^b   Mansour, S ^e   Maye, U ^d   Mckee, S ^f   Mohammed, S ^g   Sweeney, E ^a   Tassabehji, M ^b   De Vries, B B A ^c   Clayton Smith, J ^b  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

^e ST GEORGE S HOSPITAL   (United Kingdom)

^f BELFAST CITY HOSPITAL   (United Kingdom)

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

Author keywords

Blepharophimosis; Developmental delay; Ohdo syndrome; Young Simpson syndrome

Indexed keywords

CARBIMAZOLE; THYROXINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRYPTORCHISM; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; FEMALE; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; OHDO SYNDROME; ORCHIDOPEXY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SAY BARBER BIESECKER YOUNG SIMPSON SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BLEPHAROPHIMOSIS; CHILD; COHORT STUDIES; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; HUMANS; LEARNING DISORDERS; LIMB DEFORMITIES, CONGENITAL; PHENOTYPE; SYNDROME;

EID: 53949101774     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01087.x     Document Type: Article

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