Spectrum of NSD1 mutations in Sotos and Weaver syndromes

Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandator...

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Bibliografske podrobnosti
Main Authors: Rio, M, Clech, L, Amiel, J, Faivre, L, Lyonnet, S, Le Merrer, M, Odent, S, Lacombe, D, Edery, P, Brauner, R, Raoul, O, Gosset, P, Prieur, M, Vekemans, M, Munnich, A, Colleaux, L, Cormier-Daire, V
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2003
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735492/
https://ncbi.nlm.nih.gov/pubmed/12807965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.6.436
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