Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Rossetti, Linda Z; Glinton, Kevin; Yuan, Bo; Liu, Pengfei; Pillai, Nishitha; Mizerik, Elizabeth; Magoulas, Pilar; Rosenfeld, Jill A; Karaviti, Lefkothea; Sutton, Vernon R; Lalani, Seema R; Scott, Daryl A

Rossetti, Linda Z; Glinton, Kevin; Yuan, Bo; Liu, Pengfei; Pillai, Nishitha; Mizerik, Elizabeth; Magoulas, Pilar; Rosenfeld, Jill A; Karaviti, Lefkothea; Sutton, Vernon R; Lalani, Seema R; Scott, Daryl A.

Afiliação

Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Glinton K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Liu P; Baylor Genetics, Houston, Texas.
Pillai N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Mizerik E; Baylor Genetics, Houston, Texas.
Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Karaviti L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Lalani SR; Division of Pediatric Endocrinology, Baylor College of Medicine, Houston, Texas.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Am J Med Genet A ; 179(7): 1376-1382, 2019 07.

Article em En | MEDLINE | ID: mdl-31069960

Assuntos

Haploinsuficiência; Proteínas de Membrana/genética; Fenótipo; Fatores de Transcrição/genética; Sequência de Aminoácidos; Feminino; Humanos; Recém-Nascido; Masculino; Proteínas de Membrana/química; Homologia de Sequência de Aminoácidos; Fatores de Transcrição/química

Palavras-chave

MYRF; congenital diaphragmatic hernia; congenital heart defects; myelin regulatory factor; pulmonary hypoplasia; urogenital anomalies

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Haploinsuficiência / Proteínas de Membrana Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

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