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Article

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

American journal of medical genetics. Part A - 1 Jun 2021

Dinçer Tuba, Gümüş Evren, Toraman Bayram, Er İdris, Yildiz Gokhan, Yüksel Zafer, Kalay Ersan

Abstract excerpt

Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting...

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PMID: 33713555
DOI: 10.1002/ajmg.a.62154

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Click a neighbor to travelStep 1 · 12 closest

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.PMID 33713555Read ↗

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.Semantic proximity Read ↗

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.Semantic proximity Read ↗

Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Semantic proximity Read ↗

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Semantic proximity Read ↗

Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.Semantic proximity Read ↗

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.Semantic proximity Read ↗

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathySemantic proximity Read ↗

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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.Semantic proximity Read ↗

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