The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1 ‐associated anauxetic dysplasia-Reference-Cited by-同舟云学术

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1 ‐associated anauxetic dysplasia

Published:2020-03-05 Issue:5 Volume:182 Page:1268-1272
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abdulhadi‐Atwan Maha¹^ORCID,Klopstock Tehila²³,Sharaf Muna⁴,Weinberg‐Shukron Ariella²³,Renbaum Paul²,Levy‐Lahad Ephrat²³,Zangen David³⁴

Affiliation:

1. Pediatric Endocrinology Service, Palestine Red Crescent Society Hospital Hebron Palestine

2. Medical Genetics InstituteShare Zedek Medical Center Jerusalem Israel

3. The Hebrew University School of Medicine Jerusalem Israel

4. Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, and Faculty of MedicineHebrew University of Jerusalem Jerusalem Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61538

Reference18 articles.

1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

2. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

3. Further evidence ofPOP1mutations as the cause of anauxetic dysplasia

4. Of proteins and RNA: The RNase P/MRP family

5. Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

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1. Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene;Clinical Genetics;2024-02-13

2. Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report;American Journal of Medical Genetics Part A;2023-06-09

3. The Dynamic Network of RNP RNase P Subunits;International Journal of Molecular Sciences;2021-09-24