A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.

Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201

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Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neonatology 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology
UniBE Contributor:	Oestreich, Marc-Alexander Heinz, Keller, Fabian, Bovermann, Xenia Ursula, Braun, Dominique, Schiller, Rike, Raio, Luigi, Zweier, Christiane Gertrud, Casaulta, Carmen, Kidszun, André, Popa-Todirenchi, Mircea-Horia
Subjects:	600 Technology > 610 Medicine & health
ISSN:	1439-3824
Publisher:	Thieme
Language:	English
Submitter:	Pubmed Import
Date Deposited:	16 Jan 2024 13:20
Last Modified:	04 Mar 2024 13:33
Publisher DOI:	10.1055/a-2235-6201
PubMed ID:	38224688
URI:	https://boris.unibe.ch/id/eprint/191652