Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.

Ungar, Rachel A; Giri, Neelam; Pao, Maryland; Khincha, Payal P; Zhou, Weiyin; Alter, Blanche P; Savage, Sharon A

Ungar, Rachel A; Giri, Neelam; Pao, Maryland; Khincha, Payal P; Zhou, Weiyin; Alter, Blanche P; Savage, Sharon A.

Afiliação

Ungar RA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.
Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.
Pao M; National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland.
Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.
Zhou W; Genomics Research Laboratory, Leidos Biomedical Research, Inc., NCI-Frederick, Frederick, Maryland.
Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland.

Am J Med Genet A ; 176(6): 1432-1437, 2018 06.

Article em En | MEDLINE | ID: mdl-29696773

Assuntos

DNA Helicases/genética; Disceratose Congênita/etiologia; Transtornos do Humor/etiologia; Triptofano Hidroxilase/genética; Adolescente; Diabetes Mellitus Tipo 1/etiologia; Diabetes Mellitus Tipo 1/genética; Disceratose Congênita/genética; Homozigoto; Humanos; Hipotireoidismo/etiologia; Hipotireoidismo/genética; Masculino; Transtornos do Humor/tratamento farmacológico; Transtornos do Humor/genética; Fenótipo; Sequenciamento Completo do Genoma; Adulto Jovem

Palavras-chave

GDAP1L1; LRP4; RTEL1; SCN4A; STPBN5; TPH1; dyskeratosis congenital; mood dysregulation

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Triptofano Hidroxilase / DNA Helicases / Disceratose Congênita / Transtornos do Humor Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adolescent / Adult / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

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