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Article

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

American journal of medical genetics. Part A - 1 Jul 2018

Gos Monika, Smigiel Robert, Kaczan Teresa, Landowska Aleksandra, Abramowicz Anna, Sasiadek Malgorzata, Bal Jerzy

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFCS), a rare congenital disorder of RASopathies, displays high phenotypic variability. Complications during pregnancy and in the perinatal period are commonly reported. Polyhydramnios is observed in over half of pregnancies and might occur with fetal macrocephaly, macrosomia, and/or heart defects. Premature birth is not uncommon and any complications like respiratory...

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PMID: 29799162
DOI: 10.1002/ajmg.a.38837

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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