Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

BACKGROUND: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal malformations and supernumerary or hypoplastic nipples. Generally, GS is associat...

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Detalles Bibliográficos
Autores principales: Arlt, Annabelle, Kohlschmidt, Nicolai, Hentschel, Andreas, Bartels, Enrika, Groß, Claudia, Töpf, Ana, Edem, Pınar, Szabo, Nora, Sickmann, Albert, Meyer, Nancy, Schara-Schmidt, Ulrike, Lau, Jarred, Lochmüller, Hanns, Horvath, Rita, Oktay, Yavuz, Roos, Andreas, Hiz, Semra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802438/
https://www.ncbi.nlm.nih.gov/pubmed/35101074
http://dx.doi.org/10.1186/s13023-021-02068-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802438/
https://www.ncbi.nlm.nih.gov/pubmed/35101074
http://dx.doi.org/10.1186/s13023-021-02068-w

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