Cargando…
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria
BACKGROUND: 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency is a rare form of congenital adrenal hyperplasia (CAH), with fewer than 200 cases reported in the world literature and few data on outcomes. PATIENTS AND METHODS: We report a mixed longitudinal and cross-sectional study from a single...
Autores principales: | Ladjouze, Asmahane, Donaldson, Malcolm, Plotton, Ingrid, Djenane, Nacima, Mohammedi, Kahina, Tardy-Guidollet, Véronique, Mallet, Delphine, Boulesnane, Kamélia, Bouzerar, Zair, Morel, Yves, Roucher-Boulez, Florence |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9229600/ https://www.ncbi.nlm.nih.gov/pubmed/35757411 http://dx.doi.org/10.3389/fendo.2022.867073 |
Ejemplares similares
-
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene
por: Goursaud, Claire, et al.
Publicado: (2018) -
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder
por: Roucher-Boulez, Florence, et al.
Publicado: (2019) -
66 Optic neuritis in children
por: Melzi, S, et al.
Publicado: (2022) -
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5)
por: Teoli, Jordan, et al.
Publicado: (2023) -
Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation
por: Lucas, Cécily, et al.
Publicado: (2023)