<scp> <i>MED12</i> ‐related </scp> Hardikar syndrome: Two additional cases and novel phenotypic features-Reference-Cited by-同舟云学术

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

Published:2022-04-06 Issue:7 Volume:188 Page:2231-2236
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Pillai Nishitha R.¹^ORCID,Miller Dana²^ORCID,Bronken Grace²^ORCID,Salunke Amrita Kahlon³,Aggarwal Anjali¹^ORCID

Affiliation:

1. Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA

2. M‐Health Fairview Minneapolis Minnesota USA

3. Division of Pediatric Gastroenterology, Hepatology and Nutrition University of Minnesota Minneapolis Minnesota USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62756

Reference16 articles.

1. Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED 12 missense mutation [c.5922G>T (p.Glu1974His)]

2. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

3. Hardikar syndrome: A new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis

4. MED12related disorders

5. Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome?

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability;American Journal of Medical Genetics Part A;2024-08-30

2. A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester;Prenatal Diagnosis;2024-05-22

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