Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Rubinstein-Taybi syndrome (RTS) is a well delineated multiple congenital anomaly syndrome characterised by mental retardation, broad thumbs and toes, short stature, and specific facial features. The recent localisation of the disorder to 16p13.3 and subsequent identification of a submicroscopic dele...

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Hauptverfasser: Wallerstein, R, Anderson, C E, Hay, B, Gupta, P, Gibas, L, Ansari, K, Cowchock, F S, Weinblatt, V, Reid, C, Levitas, A, Jackson, L
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1997
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050893/
https://ncbi.nlm.nih.gov/pubmed/9132490
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