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Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.

dc.contributor.authorMacaskill, Laura
dc.contributor.authorReali, Lisa
dc.contributor.authorNaik, Swati
dc.date.accessioned2024-03-05T10:37:17Z
dc.date.available2024-03-05T10:37:17Z
dc.date.issued2024-02-26
dc.identifier.citationMacaskill L, Reali L, Naik S. Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris. Clin Dysmorphol. 2024 Jul 1;33(3):125-127. doi: 10.1097/MCD.0000000000000482.en_US
dc.identifier.eissn1473-5717
dc.identifier.doi10.1097/MCD.0000000000000482
dc.identifier.pmid38411002
dc.identifier.urihttp://hdl.handle.net/20.500.14200/3867
dc.description.abstractWaardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of irisen_US
dc.language.isoenen_US
dc.publisherLippincott, Williams & Wilkinsen_US
dc.relation.urlhttps://journals.lww.com/clindysmorphol/citation/9900/waardenburg_syndrome_type_1__a_case_report_of_a.65.aspxen_US
dc.subjectOphthalmologyen_US
dc.subjectPaediatricsen_US
dc.titleWaardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris.en_US
dc.typeArticle
dc.source.journaltitleClinical Dysmorphology
dc.source.countryEngland
rioxxterms.versionNAen_US
dc.contributor.trustauthorMacaskill, Laura
dc.contributor.departmentNeonatologyen_US
dc.contributor.roleMedical and Dentalen_US
oa.grant.openaccessnaen_US


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