☆ 4.0 Article

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant

BALKAN JOURNAL OF MEDICAL GENETICS (2022)

Related references

Note: Only part of the references are listed.

Article Surgery

Cyclopia, a newborn with a single eye, a rare but lethal congenital anomaly: A case report

Naser Parizad et al.

Summary: Cyclopia is a rare congenital disorder characterized by facial abnormalities, which often leads to stillbirth or premature birth due to abnormal development in fetuses.

INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS (2021)

Add to Collection

Review Biochemistry & Molecular Biology

The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes

Christine K. C. Loo et al.

Summary: The Hedgehog (HH) signalling pathway is crucial in controlling cell differentiation and proliferation during human development. The Sonic Hedgehog (SHH) pathway is complex and influenced by various factors, leading to different outcomes even with the same genetic mutations. The understanding of SHH signalling in human development can be further enhanced through studying specific examples and exploring the implications of SHH mutations in different disorders.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Add to Collection

Article Medicine, General & Internal

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst

Jianjun Xiong et al.

MEDICINE (2019)

Add to Collection

Review Genetics & Heredity

Recent advances in understanding inheritance of holoprosencephaly

Christele Dubourg et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Add to Collection

Review Genetics & Heredity

Syndromes associated with holoprosencephaly

Paul Kruszka et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Add to Collection

Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

Add to Collection

Article Genetics & Heredity

Risk Factors for Non-Syndromic Holoprosencephaly in the National Birth Defects Prevention Study

Eric A. Miller et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Add to Collection

Article Genetics & Heredity

Non-Genetic Risk Factors for Holoprosencephaly

Candice Y. Johnson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Add to Collection

Article Genetics & Heredity

Analysis of Genotype-Phenotype Correlations in Human Holoprosencephaly

Benjamin D. Solomon et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2010)

Add to Collection

Review Pediatrics

Holoprosencephaly: recommendations for diagnosis and management

Emily F. Kauvar et al.

CURRENT OPINION IN PEDIATRICS (2010)

Add to Collection

Article Genetics & Heredity

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Benjamin D. Solomon et al.

JOURNAL OF MEDICAL GENETICS (2010)

Add to Collection

Article Genetics & Heredity

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

A. A. Keaton et al.

MOLECULAR SYNDROMOLOGY (2010)

Add to Collection

Review Genetics & Heredity

Holoprosencephaly

Christele Dubourg et al.

ORPHANET JOURNAL OF RARE DISEASES (2007)

Add to Collection

© Peeref 2019-2024. All rights reserved.