Review
Published on 21 Dec 2023
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2023.1268345
- 6,083 views
- 5 citations
25 articles related to "Recessive Disorders"
Articles
Case Report
Published on 31 Oct 2019
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2019.01085
- 3,979 views
- 9 citations
Case Report
Published on 12 Jan 2022
Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.808006
- 7,612 views
Hypothesis and Theory
Published on 12 Jan 2026
X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics
in Cardiovascular and Smooth Muscle Pharmacology
Frontiers in Pharmacology
doi 10.3389/fphar.2025.1716863
- 1,465 views
Review
Published on 03 Aug 2022
Adrenal hyperplasias in childhood: An update
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2022.937793
- 6,518 views
- 3 citations
Case Report
Published on 14 Oct 2020
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2020.576235
- 5,226 views
- 6 citations
Original Research
Published on 17 Apr 2020
Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls
in Pediatric Nephrology
Frontiers in Pediatrics
doi 10.3389/fped.2020.00165
- 4,958 views
- 7 citations
Original Research
Published on 10 Aug 2021
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.719437
- 7,273 views
- 26 citations
Original Research
Published on 03 Nov 2022
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.1047474
- 7,087 views
- 41 citations
Original Research
Published on 14 Aug 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2025.1622391
- 3,566 views
Case Report
Published on 13 Jan 2023
Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.970204
- 5,766 views
- 7 citations
Case Report
Published on 28 May 2019
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2019.00210
- 5,801 views
- 2 citations
Original Research
Published on 15 Aug 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.936064
- 3,389 views
- 5 citations
Case Report
Published on 25 Mar 2022
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
in Pediatric Neurology
Frontiers in Neurology
doi 10.3389/fneur.2022.826225
- 6,275 views
- 7 citations
Case Report
Published on 13 Jan 2021
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature
in Pediatric Gastroenterology, Hepatology and Nutrition
Frontiers in Pediatrics
doi 10.3389/fped.2020.616582
- 3,928 views
- 13 citations
Case Report
Published on 25 Aug 2021
Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review
in Pediatric Hematology and Hematological Malignancies
Frontiers in Pediatrics
doi 10.3389/fped.2021.672187
- 4,746 views
- 8 citations