Wiedemann-Steiner Syndrome with 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation

Journal of Child Neurology

Volumn 32, Issue 2, 2017, Pages 237-242

  Min Ko, Jung ^a   Cho, Jae So ^a   Yoo, Yongjin ^a   Seo, Jieun ^a   Choi, Murim ^a   Chae, Jong Hee ^a   Lee, Hye Ran ^a   Cho, Tae Joon ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

congenital hip dislocation; fibromatosis colli; KMT2A; psychomotor retardation; Wiedemann Steiner syndrome

Indexed keywords

METHYLTRANSFERASE; HISTONE LYSINE METHYLTRANSFERASE; MIXED LINEAGE LEUKEMIA PROTEIN; MLL PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; GENE; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; KARYOTYPING; KMT2A GENE; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUSCULOSKELETAL DISEASE; PATENT DUCTUS ARTERIOSUS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; WIEDEMANN STEINER SYNDROME; ABNORMALITIES; CONGENITAL HIP DISLOCATION; DEVELOPMENTAL DISORDER; FACE; FOREARM; GENETICS; HAND MALFORMATION; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; MUTATION; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FACE; FEMALE; FOREARM; HAND DEFORMITIES, CONGENITAL; HIP DISLOCATION, CONGENITAL; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; HYPERTRICHOSIS; MALE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; MYELOID-LYMPHOID LEUKEMIA PROTEIN; SYNDROME;

EID: 85011596013     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073816674095     Document Type: Article

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