Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by <i>STX16</i> deletion-Reference-Cited by-同舟云学术

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

Published:2023-02-20 Issue:5 Volume:191 Page:1476-1478
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Vos Niels¹^ORCID,Menke Leonie A.²,Mooij Christiaan F.³,van den Akker Erica L. T.⁴,Alders Mariëlle¹,van Haelst Mieke M.¹

Affiliation:

1. Department of Human Genetics Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute Amsterdam The Netherlands

2. Department of Pediatrics, Emma Children's Hospital Amsterdam University Medical Center, University of Amsterdam, Amsterdam Reproduction and Development Research Institute Amsterdam The Netherlands

3. Department of Pediatric Endocrinology, Emma Children's Hospital Amsterdam University Medical Center, University of Amsterdam Amsterdam The Netherlands

4. Division of Endocrinology, Department of Pediatrics, Erasmus MC‐Sophia Children's Hospital University Medical Center Rotterdam Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63154

Reference6 articles.

1. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

2. Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused bySTX16deletion

3. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

4. The world’s tallest nation has stopped growing taller: the height of Dutch children from 1955 to 2009

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1. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B;European Journal of Endocrinology;2023-12-01