Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient-Reference-Cited by-同舟云学术

Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient

Published:2024-02-23 Issue:1 Volume:85 Page:331-340
ISSN:1559-0100
Container-title:Endocrine
language:en
Short-container-title:Endocrine

Author:

Yang Yi,Jiang Siqi,Nie Min,Jiang Yan,Li Mei,Xia Weibo,Xing Xiaoping,Wang Ou^ORCID,Pan Hui

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12020-024-03740-4.pdf

Reference40 articles.

1. E.S. Doherty, F.L. Lacbawan 2q37, Microdeletion Syndrome. In: Adam M., Mirzaa G., Pagon R., Al E., editors. GeneReviews. Seattle, WA: University of Washington; 2007.

2. A. Arefzadeh, P. Khalighinejad, B. Ataeinia, P. Parvar, Brachydactyly mental retardation syndrome with growth hormone deficiency. Endocrinol. Diabetes Metab. Case Rep. 2018, 18–0068 (2018)

3. F.M. Elli, L. Desanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli et al. Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: Clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3. Clin. Epigeneti. 11, 1–8 (2019)

4. F.M. Elli, L. de Sanctis, B. Madeo, M.A. Maffini, P. Bordogna, A. Pirelli et al. 2q37 deletions in patients with an albright hereditary osteodystrophy phenotype and PTH resistance. Front. Endocrinol. 10, 1–7 (2019)

5. M.M. Power, R.S. James, J.C.K. Barber, A.M. Fisher, P.J. Wood, B.A. Leatherdale et al. RDCI, the vasoactive intestinal peptide receptor: A candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37. J. Med. Genet. 34, 287–290 (1997)