Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics. Part A 2021-12, Vol.185 (12), p.3900-3904
Hauptverfasser:	Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina, Geyer, Matthias, Basmanav, Fitnat Buket, Betz, Regina C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alopecia - complications Alopecia - genetics Alopecia - pathology Child Child, Preschool congenital alopecia Female Genetic Predisposition to Disease Genetics & Heredity Humans Hypotrichosis - complications Hypotrichosis - genetics Hypotrichosis - pathology hypotrichosis simplex intellectual disability Intramolecular Transferases - genetics lanosterol synthase Life Sciences & Biomedicine Male Mutation - genetics Neurodevelopmental Disorders - complications Neurodevelopmental Disorders - genetics Neurodevelopmental Disorders - pathology Pedigree Phenotype Phenotypes prenatal diagnostics Science & Technology Whole Exome Sequencing
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