Holoprosencephaly Latest Advances

Find the Latest Research About Holoprosencephaly

Last Updated: 06/30/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1533 publications

Letter to the Editor Regarding "Expanding the Phenotypic Expression of Sonic Hedgehog Mutations Beyond Holoprosencephaly".

Letter to the Editor Regarding "Expanding the Phenotypic Expression of Sonic Hedgehog Mutations Beyond Holoprosencephaly".

Journal: The Journal of craniofacial surgery
Published: March 26, 2026

Counseling Preferences of Expectant Parents With a Fetal Neurologic Diagnosis: A Scoping Review of the Literature.

Counseling Preferences of Expectant Parents With a Fetal Neurologic Diagnosis: A Scoping Review of the Literature.

Journal: Journal of child neurology
Published: March 26, 2026

Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report.

Semilobar holoprosencephaly associated with maternal diabetes in a toddler: A case report.

Journal: Radiology case reports
Published: March 12, 2026

Septo-Optic-Pituitary Dysplasia Is a Clinical Syndrome, Not a Neuropathological Entity: An Autopsy-Based Study.

Septo-Optic-Pituitary Dysplasia Is a Clinical Syndrome, Not a Neuropathological Entity: An Autopsy-Based Study.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: January 29, 2026

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report.

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report.

Journal: Molecular syndromology
Published: January 26, 2026

The hedgehog co-receptors cdon and boc function redundantly to regulate zebrafish craniofacial development.

The hedgehog co-receptors cdon and boc function redundantly to regulate zebrafish craniofacial development.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: December 12, 2025

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.

Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.

Journal: Cureus
Published: December 08, 2025

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Digital Technologies in Diagnosing Solitary Median Maxillary Central Incisor Syndrome.

Journal: Children (Basel, Switzerland)
Published: November 16, 2025

Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.

Prerepair Mortality in Cleft Lip and/or Palate: A Retrospective Analysis of Early Childhood Deaths.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: November 10, 2025

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.

Journal: American journal of medical genetics. Part A
Published: November 06, 2025

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.

Journal: International medical case reports journal
Published: November 01, 2025

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Showing 1-12 of 1,533

Last Updated: 06/30/2026