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Article

Crisponi syndrome: a new case with additional features and new mutation in CRLF1.

American journal of medical genetics. Part A - 15 Dec 2008

Okur Ilyas, Tumer Leyla, Crisponi Laura, Eminoglu Fatma Tuba, Chiappe Francesca, Cinaz Peyami, Yenicesu Idil, Hasanoglu Alev

Abstract excerpt

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Topics

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19012339
DOI: 10.1002/ajmg.a.32531

Genes

CRLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Crisponi syndrome: a new case with additional features and new mutation in CRLF1.PMID 19012339Read ↗

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The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.Semantic proximity Read ↗

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.Semantic proximity Read ↗

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.Semantic proximity Read ↗

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Semantic proximity Read ↗

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.Semantic proximity Read ↗

Cockayne syndrome: the expanding clinical and mutational spectrum.Semantic proximity Read ↗

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletionSemantic proximity Read ↗

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