Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum-Reference-Cited by-同舟云学术

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Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Published:2017-04-03 Issue:5 Volume:173 Page:1383-1389
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bouman Arjan¹^ORCID,Alders Mariëlle¹,Oostra Roelof Jan²,van Leeuwen Elisabeth³,Thuijs Nikki⁴,van der Kevie‐Kersemaekers Anne‐Marie¹,van Maarle Merel¹

Affiliation:

1. Department of Clinical GeneticsAcademic Medical CenterAmsterdamThe Netherlands

2. Department of AnatomyEmbryology and PhysiologyAcademic Medical CenterThe Netherlands

3. Department of Obstetrics and GynaecologyAcademic Medical CenterAmsterdamThe Netherlands

4. Department of PathologyAcademic Medical CenterAmsterdamThe Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38179

Reference41 articles.

1. A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination

2. Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

3. The developmental genetics of congenital heart disease

4. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

5. The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation

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1. Gender-specific genetic and epigenetic signatures in cardiovascular disease;Frontiers in Cardiovascular Medicine;2024-03-11

2. Genetics of Common Birth Defects in Newborns;Principles of Neonatology;2024

3. Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome;Genes;2023-01-27

4. A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV;Annals of Human Genetics;2022-08-30

5. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review;European Journal of Medical Genetics;2022-06

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