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Article

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.

American journal of medical genetics. Part A - 1 May 2013

Gripp Karen W, Ennis Sara, Napoli Joseph

Abstract excerpt

Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23610050
DOI: 10.1002/ajmg.a.35913

Genes

RIPK4
KRT83

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.PMID 23610050Read ↗

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

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 triosSemantic proximity Read ↗

Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohortSemantic proximity Read ↗

Three rare disease diagnoses in one patient through exome sequencing.Semantic proximity Read ↗

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.Semantic proximity Read ↗

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.Semantic proximity Read ↗

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Semantic proximity Read ↗

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Semantic proximity Read ↗

Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.Semantic proximity Read ↗

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Semantic proximity Read ↗

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