X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female-Reference-Cited by-同舟云学术

X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

Published:2017 Issue:4 Volume:24 Page:257
ISSN:2287-6375
Container-title:Journal of Bone Metabolism
language:en
Short-container-title:J Bone Metab

Author:

Vidmar Alaina P.¹²,Miyazaki Brian¹²,Sanchez-Lara Pedro A.²,Pitukcheewanont Pisit¹²

Affiliation:

1. Center for Endocrinology, Diabetes and Metabolism, Division of Endocrinology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

2. Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, USA.

Publisher

Korean Society for Bone and Mineral Research

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://synapse.koreamed.org/pdf/10.11005/jbm.2017.24.4.257

Reference8 articles.

1. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

2. Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

3. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

4. A novelde novomutation withinPHEXgene in a young girl with hypophosphatemic rickets and review of literature

5. Hypophosphatemic rickets: etiology, clinical features and treatment

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1. Identification of Rare and Novel PHEX Variants in X-linked Hypophosphatemia;The Journal of Clinical Endocrinology & Metabolism;2024-05-09

2. Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program;Journal of Bone and Mineral Research;2021-11-10

3. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets;Calcified Tissue International;2021-09-06

4. Clinical case report;Medicine;2020-03

5. Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance;American Journal of Medical Genetics Part A;2018-08-06