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

American Journal of Medical Genetics, Part A

Volumn 155, Issue 9, 2011, Pages 2105-2111

  Fickie, Matthew R ^a,b   Lapunzina, Pablo ^c,d,e   Gentile, Jennifer K ^f   Tolkoff Rubin, Nina ^a   Kroshinsky, Daniela ^a   Galan, Enrique ^g   Gean, Esther ^h   Martorell, Loreto ^h   Romanelli, Valeria ⁱ   Toral, Joaquín Fernandez ^j   Lin, Angela E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e Registro Español de Síndromes de Sobrecrecimiento RESSC   (Spain)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g Hospital Materno Infatil de Badajoz   (Spain)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^j HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

more..

Author keywords

Adults with genetic disorders; Familial gigantism; NSD1; Overgrowth syndrome; Sotos syndrome; Transitional care

Indexed keywords

ADULT; ARTICLE; BASAL CELL CARCINOMA; BRAIN MALFORMATION; CANCER EPIDEMIOLOGY; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EYE DISEASE; FEMALE; FIBROMUSCULAR DYSPLASIA; GENE; GENE DELETION; GENE IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH CURVE; HAPLOINSUFFICIENCY; HUMAN; LEARNING DISORDER; MALE; MENTAL DISEASE; NSD1 GENE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; RISK FACTOR; SCOLIOSIS; SOTOS SYNDROME; SQUAMOUS CELL CARCINOMA; SUN EXPOSURE;

ADULT; CARCINOMA, BASAL CELL; CARCINOMA, SQUAMOUS CELL; CRANIOFACIAL ABNORMALITIES; FEMALE; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEARNING DISORDERS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; PHENOTYPE; SOTOS SYNDROME;

EID: 81155159639     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34156     Document Type: Article

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