Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders-Reference-Cited by-同舟云学术

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

Published:2019-05 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Truelove Adam¹^ORCID,Mulay Akhilesh¹^ORCID,Prapa Matina²,Casey Ruth T.³,Adler Amanda I.³,Offiah Amaka C.⁴,Poole Kenneth E. S.⁵,Trotman Jamie²,Al Hasso Namir²,Park Soo‐Mi²

Affiliation:

1. School of Clinical MedicineUniversity of Cambridge Cambridge UK

2. East Anglian Medical Genetics ServiceCambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus Cambridge UK

3. Wolfson Diabetes and Endocrine Clinic, Department of EndocrinologyCambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus Cambridge UK

4. Paediatric Musculoskeletal Imaging, Academic Unit of Child Health, University of Sheffield, Sheffield Children's NHS Foundation Trust Sheffield UK

5. Department of RheumatologyCambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus Cambridge UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61163

Reference23 articles.

1. GNAS1 mutational analysis in pseudohypoparathyroidism;Ahmed S. F.;Clinical Endocrinology,1998

2. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy;Ahrens W.;The Journal of Clinical Endocrinology and Metabolism,2001

3. Centiles for adult head circumference;Bushby K. M.;Archives of Disease in Childhood,1992

4. Carney complex: An update;Correa R.;European Journal of Endocrinology/European Federation of Endocrine Societies,2015

5. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series;Elli F. M.;Bone,2013

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Seudohipoparatiroidismo: enfermedad huérfana en endocrinología. Reporte de un caso;Case reports;2023-02-14

2. Pseudohypoparathyroidism versus signaling disorder: A case report;SAGE Open Medical Case Reports;2023-01

3. Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants;Endocrine Connections;2022-10-01