Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Truelove, Adam; Mulay, Akhilesh; Prapa, Matina; Casey, Ruth T; Adler, Amanda I; Offiah, Amaka C; Poole, Kenneth E S; Trotman, Jamie; Al Hasso, Namir; Park, Soo-Mi

Truelove, Adam; Mulay, Akhilesh; Prapa, Matina; Casey, Ruth T; Adler, Amanda I; Offiah, Amaka C; Poole, Kenneth E S; Trotman, Jamie; Al Hasso, Namir; Park, Soo-Mi.

Afiliação

Truelove A; School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Mulay A; School of Clinical Medicine, University of Cambridge, Cambridge, UK.
Prapa M; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Casey RT; Wolfson Diabetes and Endocrine Clinic, Department of Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Adler AI; Wolfson Diabetes and Endocrine Clinic, Department of Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Offiah AC; Paediatric Musculoskeletal Imaging, Academic Unit of Child Health, University of Sheffield, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Poole KES; Department of Rheumatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Trotman J; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Al Hasso N; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Park SM; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.

Am J Med Genet A ; 179(7): 1330-1337, 2019 07.

Article em En | MEDLINE | ID: mdl-31041856

Assuntos

Disostoses/genética; Deficiência Intelectual/genética; Osteocondrodisplasias/genética; Proteína Relacionada ao Hormônio Paratireóideo/metabolismo; Hormônio Paratireóideo/metabolismo; Pseudo-Hipoparatireoidismo/genética; Transdução de Sinais; Disostoses/metabolismo; Humanos; Deficiência Intelectual/metabolismo; Masculino; Pessoa de Meia-Idade; Osteocondrodisplasias/metabolismo; Pseudo-Hipoparatireoidismo/metabolismo

Palavras-chave

Albright hereditary osteodystrophy; acrodysostosis; iPPSD; pseudohypoparathyroidism; pseudopseudohypoparathyroidism

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Hormônio Paratireóideo / Pseudo-Hipoparatireoidismo / Transdução de Sinais / Proteína Relacionada ao Hormônio Paratireóideo / Disostoses / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos

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