A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report ; volume:24 ; number:1 ; day:13 ; month:12 ; year:2023 ; pages:1-8 ; date:12.2023
The Egyptian journal of medical human genetics ; 24, Heft 1 (13.12.2023), 1-8, 12.2023

Creator: Conde-Rubio, Paula
García-Malinis, Ana Julia
Salvador-Rupérez, Elvira
Izquierdo Álvarez, Silvia
González-Tarancón, Ricardo

Contributor: SpringerLink (Online service)

DOI: 10.1186/s43042-023-00463-5

URN: urn:nbn:de:101:1-2024022810575414669073

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:54 AM CEST

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Conde-Rubio, Paula
García-Malinis, Ana Julia
Salvador-Rupérez, Elvira
Izquierdo Álvarez, Silvia
González-Tarancón, Ricardo
SpringerLink (Online service)

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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

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Other Objects (12)

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

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Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report

Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

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An intron 9 containing splice variant of PAX2

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A novel SPINK5 donor splice site variant in a child with Netherton syndrome

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An intron 9 containing splice variant of PAX2

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