Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: British journal of dermatology. - 184, 6 (2021) , 1190-1192, ISSN: 1365-2133

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2021

Creator: Keller, Julia
Gläser, Selina
Ahmad‐Anwar, Mewish
Zimmer, Andreas D.
Kuhn, Marion
Hörer, Steffen
Korenke, Christoph
Grothaus, Julia
Ott, Hagen
Fischer, Judith

DOI: 10.1111/bjd.19815

URN: urn:nbn:de:bsz:25-freidok-1939336

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

Last update: 15.08.2025, 7:36 AM CEST

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Associated

Keller, Julia
Gläser, Selina
Ahmad‐Anwar, Mewish
Zimmer, Andreas D.
Kuhn, Marion
Hörer, Steffen
Korenke, Christoph
Grothaus, Julia
Ott, Hagen
Fischer, Judith
Universität

Time of origin

2021

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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome

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Other Objects (12)

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Maternal isodisomy of chromosome 3 combined with a de novo mutation in the ABHD5 gene causes autosomal recessive Chanarin-Dorfman syndrome

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Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome

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