Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

Sotos syndrome is a well‐described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, and variable learning disabilities. The diagnosis of Sotos syndrome relied solely on these clinical criteria until haploinsufficiency of the NSD1 gene was identified as caus...

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Veröffentlicht in:	American journal of medical genetics. Part A 2011-09, Vol.155A (9), p.2105-2111
Hauptverfasser:	Fickie, Matthew R., Lapunzina, Pablo, Gentile, Jennifer K., Tolkoff-Rubin, Nina, Kroshinsky, Daniela, Galan, Enrique, Gean, Esther, Martorell, Loreto, Romanelli, Valeria, Toral, Joaquín Fernandez, Lin, Angela E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult adults with genetic disorders Age Basal cells Biological and medical sciences Carcinoma, Basal Cell Carcinoma, Squamous Cell Case reports Cognitive ability Computed tomography Craniofacial Abnormalities - genetics Dysplasia Endocrinopathies Eye familial gigantism Female Genotype haploinsufficiency Humans Hypothalamus. Hypophysis. Epiphysis (diseases) Intracellular Signaling Peptides and Proteins - genetics Kidney diseases Kidney transplantation Learning Learning Disorders - genetics Male Medical genetics Medical sciences Mental disorders Middle Aged Neoplasia Neuroimaging Non tumoral diseases. Target tissue resistance. Benign neoplasms NSD1 Nuclear Proteins - genetics overgrowth syndrome Phenotype Point mutation Risk factors Scoliosis Sotos syndrome Sotos Syndrome - diagnosis Sotos Syndrome - epidemiology Sotos Syndrome - genetics squamous cell carcinoma Sun transitional care
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