Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull-Reference-Cited by-同舟云学术

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull

Published:2021-03-22 Issue:6 Volume:185 Page:1903-1907
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Müller Réka¹^ORCID,Steffensen Thora²,Krstić Nevena¹,Cain Mary Ashley¹

Affiliation:

1. Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology College of Medicine, University of South Florida Tampa Florida USA

2. Department of Pathology Tampa General Hospital Tampa Florida USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62182

Reference25 articles.

1. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

2. Fetal and perinatal skeletal dysplasias: an atlas of multimodality imaging

3. Promises, pitfalls and practicalities of prenatal whole exome sequencing

4. SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

5. CONGENITAL STENOSIS OF MEDULLARY SPACES IN TUBULAR BONES AND CALVARIA IN TWO PROPORTIONATE DWARFS—MOTHER AND SON; COUPLED WITH TRANSITORY HYPOCALCEMIC TETANY

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1. Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2);Molecular Genetics & Genomic Medicine;2024-04

2. Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications;International Journal of Molecular Sciences;2024-02-29

3. Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir;Frontiers in Cell and Developmental Biology;2023-06-12

4. Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report;World Journal of Clinical Cases;2023-04-06

5. Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up;Frontiers in Endocrinology;2023-01-04