Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature-Reference-Cited by-同舟云学术

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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature

Published:2021-06-04 Issue: Volume: Page:
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Turkyilmaz Ayberk¹^ORCID,Geckinli Bilgen Bilge²,Alavanda Ceren²,Arslan Ates Esra³,Buyukbayrak Esra Esim⁴,Eren Sirin Funda⁵,Arman Ahmet²

Affiliation:

1. Department of Medical Genetics, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.

2. Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.

3. Department of Medical Genetics, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.

4. Department of Perinatology, School of Medicine, Marmara University Istanbul, Turkey.

5. Department of Pathology, School of Medicine, Marmara University, Istanbul, Turkey.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2020.0311

Reference24 articles.

1. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

2. A Distinctive Triad of Malformations of the Central Nervous System in the Meckel-Gruber Syndrome

3. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome

4. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

5. The Ciliopathies: An Emerging Class of Human Genetic Disorders

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3. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO);Frontiers in Genetics;2022-06-22

4. Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review;American Journal of Medical Genetics Part A;2022-02-15

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