Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.

Vos, Niels; Menke, Leonie A; Mooij, Christiaan F; van den Akker, Erica L T; Alders, Mariëlle; van Haelst, Mieke M

Vos, Niels; Menke, Leonie A; Mooij, Christiaan F; van den Akker, Erica L T; Alders, Mariëlle; van Haelst, Mieke M.

Afiliación

Vos N; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
Mooij CF; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
van den Akker ELT; Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Alders M; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.

Am J Med Genet A ; 191(5): 1476-1478, 2023 05.

Article en En | MEDLINE | ID: mdl-36807968

Asunto(s)

Seudohipoparatiroidismo; Humanos; Seudohipoparatiroidismo/diagnóstico; Seudohipoparatiroidismo/genética; Metilación de ADN; Subunidades alfa de la Proteína de Unión al GTP Gs/genética; Cromograninas/genética; Sintaxina 16/genética; Seudohipoparatiroidismo

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Seudohipoparatiroidismo Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos

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