Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal <i>STX16</i> deletion.

Odom, John; Bacino, Carlos A; Karaviti, Lefkothea P; Bi, Weimin; Hoyos-Martinez, Alfonso

Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion.

Odom, John; Bacino, Carlos A; Karaviti, Lefkothea P; Bi, Weimin; Hoyos-Martinez, Alfonso.

Afiliación

Odom J; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Karaviti LP; Department of Pediatrics, Division of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Hoyos-Martinez A; Baylor Genetics, Houston, TX, USA.

J Pediatr Endocrinol Metab ; 37(1): 84-89, 2024 Jan 29.

Article en En | MEDLINE | ID: mdl-38095637

Asunto(s)

Obesidad Mórbida; Obesidad Infantil; Seudohipoparatiroidismo; Niño; Humanos; Preescolar; Subunidades alfa de la Proteína de Unión al GTP Gs/genética; Hermanos; Obesidad Infantil/genética; Cromograninas/genética; Seudohipoparatiroidismo/genética; Metilación de ADN; Obesidad Mórbida/genética; Fenotipo; Hiperfagia; Sintaxina 16/genética

Palabras clave

GNAS; STX16; infantile obesity; pseudohypoparathyroidism type 1B

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo / Obesidad Mórbida / Obesidad Infantil Límite: Child / Child, preschool / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos

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