Mutation Update for the GPC3 Gene Involved in Simpson-Golabi-Behmel Syndrome and Review of the Literature

Human Mutation - United States
doi 10.1002/humu.23612
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Wiley

Related search

The Importance of Differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann Syndromes.

Journal of Medical Genetics
Genetics
1992English

Autoimmune Lymphoproliferative Syndrome: An Update and Review of the Literature

Current Allergy and Asthma Reports
ImmunologyPulmonaryAllergyRespiratory Medicine
2014English

A Mutation Update for the FLNC Gene in Myopathies and Cardiomyopathies

Human Mutation
Genetics
2020English

Microbiome of the Paranasal Sinuses: Update and Literature Review

American Journal of Rhinology and Allergy
MedicineOtorhinolaryngologyAllergyImmunology
2016English

A Review and Update on the Ophthalmic Implications for Susac Syndrome

Survey of Ophthalmology
Ophthalmology
2019English

Mutation Del 1,02kb in the CLN3 Gene and Extrapyramidal Syndrome

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova
PsychiatryMental HealthNeurology
2016English

A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics
Genetics
2019English

A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

Clinical Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2018English

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Frontiers in Immunology
AllergyImmunology
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy