Cargando…

Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that leads to impaired cortisol biosynthesis. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH. Severe cases of 21-OHD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Xin, Wang, Yanyun, Ma, Dingyuan, Zhang, Zhilei, Li, Yahong, Yang, Peiying, Sun, Yun, Jiang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862715/ https://www.ncbi.nlm.nih.gov/pubmed/33552137 http://dx.doi.org/10.3389/fgene.2020.623125

Ejemplares similares

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
por: Wang, Xin, et al.
Publicado: (2021)

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
por: Tang, Peng, et al.
Publicado: (2023)

Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations
por: Zhang, Bo, et al.
Publicado: (2017)

Neonatal mass screening for 21-hydroxylase deficiency
por: Tajima, Toshihiro, et al.
Publicado: (2016)

Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency
por: Xu, Chao, et al.
Publicado: (2019)

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
por: Li, Yahong, et al.
Publicado: (2018)

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba
por: Espinosa Reyes, Tania Mayvel, et al.
Publicado: (2021)

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations
por: Zhou, Wei, et al.
Publicado: (2019)

Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dörr, Helmuth-Günther, et al.
Publicado: (2020)

Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations
por: Wang, Xudong, et al.
Publicado: (2021)

Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
por: Alonso-Fernández, José Ramón
Publicado: (2016)

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province
por: Zeng, Baitao, et al.
Publicado: (2023)

21-Hydroxylase Deficiency: Newborn Screening in Iran?
por: Mahdieh, Nejat, et al.
Publicado: (2012)

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome
por: Wu, Lihua, et al.
Publicado: (2022)

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2019)

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population
por: Dumic, Katja K., et al.
Publicado: (2023)

Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients
por: Xin, Qing, et al.
Publicado: (2023)

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center
por: Yoo, Yangho, et al.
Publicado: (2013)

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort
por: Krone, Nils, et al.
Publicado: (2013)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
por: Pignatelli, Duarte, et al.
Publicado: (2020)

Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency
por: Abdelmeguid, Yasmine, et al.
Publicado: (2021)

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation
por: Wu, Su, et al.
Publicado: (2022)

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
por: Han, Yang, et al.
Publicado: (2020)

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency
por: Tippabathani, Jayakrishna, et al.
Publicado: (2023)

Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies
por: Wang, Liang, et al.
Publicado: (2019)

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency
por: Dörr, Helmuth G., et al.
Publicado: (2019)

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
por: Zhou, Jinfu, et al.
Publicado: (2022)

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
por: Li, Shan, et al.
Publicado: (2020)

Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype–phenotype correlations in Chinese Han children with urolithiasis
por: Wang, Zhi, et al.
Publicado: (2023)

Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
por: Dong, Rui, et al.
Publicado: (2022)

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients
por: Hu, Yacen, et al.
Publicado: (2021)

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
por: Hsu, Rai-Hseng, et al.
Publicado: (2019)

The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype
por: Zhang, Nianyi, et al.
Publicado: (2021)

Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis
por: Wu, Nan, et al.
Publicado: (2020)

Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency – the Next Disease Included in The Neonatal Screening Program in Poland
por: Ginalska-Malinowska, Maria
Publicado: (2018)

Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood
por: Onuma, Shinsuke, et al.
Publicado: (2021)

Using expression quantitative trait loci data and graph-embedded neural networks to uncover genotype–phenotype interactions
por: Guo, Xinpeng, et al.
Publicado: (2022)

TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy
por: Fang, Yuan, et al.
Publicado: (2022)

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA
por: Ma, Dingyuan, et al.
Publicado: (2017)

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency
por: Itonaga, Tomoyo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_311239h9ch1c6e3ah3emu6dapd