Correction
Published on 23 Dec 2020
Corrigendum: Overgrowth Syndromes—Evaluation, Diagnosis, and Management
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.624141
- 2,786 views
- 2 citations
Type at least 3 characters
385 articles
Articles
Brief Research Report
Published on 01 Dec 2020
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.585053
- 3,245 views
- 7 citations
Case Report
Published on 30 Oct 2020
Late-Onset Carnitine–Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.585646
- 4,571 views
- 8 citations
Review
Published on 30 Oct 2020
Overgrowth Syndromes—Evaluation, Diagnosis, and Management
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.574857
- 60,259 views
- 53 citations
Review
Published on 19 Oct 2020
A Primer on a Comprehensive Genetic Approach to Vascular Anomalies
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.579591
- 15,930 views
- 35 citations
Case Report
Published on 09 Oct 2020
Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.567895
- 6,763 views
- 17 citations
Case Report
Published on 01 Sep 2020
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00461
- 4,251 views
- 5 citations
Case Report
Published on 05 Aug 2020
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00443
- 5,152 views
- 3 citations
Case Report
Published on 23 Jul 2020
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00321
- 9,495 views
- 7 citations
Case Report
Published on 17 Jul 2020
A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00380
- 3,634 views
- 5 citations
Case Report
Published on 16 Jul 2020
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00383
- 3,703 views
- 9 citations
Case Report
Published on 15 Jul 2020
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00390
- 7,686 views
- 8 citations
Original Research
Published on 09 Jul 2020
Diabetes in Patients With Ataxia Telangiectasia: A National Cohort Study
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00317
- 5,193 views
- 20 citations
Case Report
Published on 08 Jul 2020
De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00375
- 11,049 views
- 11 citations
Review
Published on 08 Jul 2020
Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00373
- 21,999 views
- 37 citations
Case Report
Published on 30 Jun 2020
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review
in Genetics of Common and Rare Diseases
Frontiers in Pediatrics
doi 10.3389/fped.2020.00303
- 6,639 views
- 7 citations