Article
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Journal of intellectual disability research : JIDR - 1 Dec 2020
Mulder P A, van Balkom I D C, Landlust A M, Priolo M, Menke L A, Acero I H, Alkuraya F S, Arias P, Bernardini L, Bijlsma E K, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu N H, Fahrner J A, Foster A, González N G, Huber I, Iascone M, Kaiser A-S, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch S A, Maas S M, Mammì C, Mathijssen I B, McKee S, Mirzaa G M, Montgomery T, Neubauer D, Neumann T E, Pintomalli L, Pisanti M A, Plomp A S, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker R V, Valdez R M, Van Haeringen A, Van Hagen J M, Zenker M, Zollino M, Dunn W W, Piening S, Hennekam R C
Abstract excerpt
BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.