Holoprosencephaly: A clinical genomics perspective
Author:
Affiliation:
1. GeneDxGaithersburg Maryland
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31613
Reference17 articles.
1. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
2. Clinical utility gene card for: Holoprosencephaly
3. CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions
4. Identification of copy number variants in whole-genome data using Reference Coverage Profiles
5. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
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1. Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations;The Journal of Maternal-Fetal & Neonatal Medicine;2024-01-02
2. Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management;Children;2023-03-30
3. Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies;Frontiers in Genetics;2021-11-25
4. A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism;Brain and Development;2020-11
5. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations;Prenatal Diagnosis;2020-02-10
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