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Article

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Prenatal diagnosis - 1 Feb 2002

Bitoun E, Bodemer C, Amiel J, de Prost Y, Stoll C, Calvas P, Hovnanian A

Abstract excerpt

Netherton syndrome (NS) is a severe autosomal recessive ichthyosis with no specific treatment or prenatal diagnosis available at present. The recent identification of SPINK5, which encodes a serine protease inhibitor, as the defective gene enables DNA based prenatal diagnosis to be carried out. Here we report the first direct molecular prenatal diagnosis of a lethal form due to a recurrent SPINK5 mutation in...

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Source

Identifiers

PMID: 11857617
DOI: 10.1002/pd.247

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.PMID 11857617Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

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Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.Semantic proximity Read ↗

Netherton Syndrome in a Mother and Her Two Children.Semantic proximity Read ↗

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.Semantic proximity Read ↗

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.Semantic proximity Read ↗

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.Semantic proximity Read ↗

Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.Semantic proximity Read ↗

Netherton syndrome: A neonatal case with respiratory insufficiency.Semantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

[A lethal variant of Netherton syndrome in a large inbred family].Semantic proximity Read ↗

Netherton syndrome: mutation analysis of two Taiwanese families.Semantic proximity Read ↗

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