Hardikar Syndrome Latest Advances

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders.

Journal: Prenatal diagnosis

Published: June 03, 2025

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.

Journal: Prenatal diagnosis

Published: September 17, 2024

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Journal: American journal of medical genetics. Part A

Published: April 30, 2024

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Journal: Prenatal diagnosis

Published: March 23, 2024

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 01, 2024

MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME.

Journal: Retinal cases & brief reports

Published: August 21, 2023

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

Journal: Seizure

Published: January 19, 2023

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

Journal: American journal of medical genetics. Part A

Published: November 22, 2021

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Journal: Genes

Published: April 02, 2021

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 22, 2020

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Journal: American journal of medical genetics. Part A

Published: December 06, 2014

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Journal: Clinical genetics

Published: January 17, 2012

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Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders.

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders.

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME.

MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals.

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?