FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Bartsch, O; Wagner, A; Hinkel, G K; Krebs, P; Stumm, M; Schmalenberger, B; Böhm, S; Balci, S; Majewski, F

Bartsch, O; Wagner, A; Hinkel, G K; Krebs, P; Stumm, M; Schmalenberger, B; Böhm, S; Balci, S; Majewski, F.

Affiliation

Bartsch O; Institute of Clinical Genetics, Technical University, Dresden, Germany. obartsch@rcs.urz.tu-dresden.de

Eur J Hum Genet ; 7(7): 748-56, 1999.

Article in En | MEDLINE | ID: mdl-10573006

Subject(s)

Gene Deletion; Hypoplastic Left Heart Syndrome/genetics; In Situ Hybridization, Fluorescence; Nuclear Proteins/genetics; Rubinstein-Taybi Syndrome/genetics; Spleen/abnormalities; Trans-Activators/genetics; Adolescent; Adult; CREB-Binding Protein; Child; Child, Preschool; Chromosomes, Human, Pair 16/genetics; Female; Humans; Infant; Infant, Newborn; Male; Rubinstein-Taybi Syndrome/mortality; Rubinstein-Taybi Syndrome/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Rubinstein-Taybi Syndrome / Spleen / Nuclear Proteins / Trans-Activators / In Situ Hybridization, Fluorescence / Gene Deletion / Hypoplastic Left Heart Syndrome Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 1999 Document type: Article Affiliation country: Germany Country of publication: United kingdom

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