Associated Papers
Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.
Altunoglu U et al.
Clinical Genetics, 2025
Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.
Perge K et al.
Reviews in Endocrine & Metabolic Disorders, 2024
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
Perge K et al.
European Journal of Endocrinology, 2024
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V et al.
European Journal of Endocrinology, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.
Li G et al.
Bmc Medical Genomics, 2021
Further phenotypic features and two novel POC1A variants in a patient with SOFT syndrome: A case report.
Li S et al.
Molecular Medicine Reports, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.
Giorgio E et al.
European Journal of Endocrinology, 2017
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
Ko JM et al.
Journal of Human Genetics, 2016
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.
Barraza-García J et al.
American Journal of Medical Genetics. Part A, 2016
Truncation of POC1A associated with short stature and extreme insulin resistance.
Chen JH et al.
Journal of Molecular Endocrinology, 2015
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice.
Geister KA et al.
Plos Genetics, 2015
Advances in Skeletal Dysplasia Genetics.
Geister KA et al.
Annual Review of Genomics and Human Genetics, 2015
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O et al.
American Journal of Human Genetics, 2012