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.

Affiliation

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 in En | MEDLINE | ID: mdl-38095637

Subject(s)

Obesity, Morbid; Pediatric Obesity; Pseudohypoparathyroidism; Child; Humans; Child, Preschool; GTP-Binding Protein alpha Subunits, Gs/genetics; Siblings; Pediatric Obesity/genetics; Chromogranins/genetics; Pseudohypoparathyroidism/genetics; DNA Methylation; Obesity, Morbid/genetics; Phenotype; Hyperphagia; Syntaxin 16/genetics

Key words

GNAS; STX16; infantile obesity; pseudohypoparathyroidism type 1B

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Full text: 1 Database: MEDLINE Main subject: Pseudohypoparathyroidism / Obesity, Morbid / Pediatric Obesity Limits: Child / Child, preschool / Humans Language: En Journal: J Pediatr Endocrinol Metab Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2024 Type: Article Affiliation country: United States

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