MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease-Reference-Cited by-同舟云学术

MAP2K2 mutation as a cause of cardio‐facio‐cutaneous syndrome in an infant with a severe and fatal course of the disease

Published:2018-05-25 Issue:7 Volume:176 Page:1670-1674
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gos Monika¹^ORCID,Smigiel Robert²,Kaczan Teresa³,Landowska Aleksandra¹,Abramowicz Anna¹,Sasiadek Malgorzata⁴,Bal Jerzy¹

Affiliation:

1. Department of Medical GeneticsInstitute of Mother and ChildWarsaw Poland

2. Department of Social PediatricsMedical UniversityWroclaw Poland

3. Department of Nervous System DiseaseMedical UniversityWroclaw Poland

4. Department of GeneticsMedical UniversityWroclaw Poland

Funder

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38837

Reference12 articles.

1. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

2. Emergence of a Genetic Diagnosis

3. The RASopathies as an example of RAS/MAPK pathway disturbances – Clinical presentation and molecular pathogenesis of selected syndromes;Bezniakow N.;Developmental Period Medicine,2014

4. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene

5. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

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3. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene;Italian Journal of Pediatrics;2022-05-04

4. Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review;American Journal of Medical Genetics Part A;2021-10-13

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