Case Reports in Genetics

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Table of Contents

Table of Contents

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 9184265
- Case Report

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Erin Conboy | Filippo Vairo | ... | Pavel Pichurin

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 2348045
- Case Report

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Elichilia R. Shao | Lucas F. Kiyegi | ... | Ben C. J. Hamel

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 7803136
- Case Report

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Marie-Emmanuelle Naud | Lucie Tosca | ... | Gérard Tachdjian

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 2357282
- Case Report

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Thi Kim Lien Nguyen | Van Dem Pham | ... | Huy Hoang Nguyen

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 2625030
- Case Report

Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

Nagendra Chaudhary | Sandeep Shrestha | Hemant Kumar Halwai

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 1048717
- Case Report

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype

Ana Isabel Sánchez | Alejandra Rincón | ... | Fernando Suárez-Obando

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 4364216
- Case Report

A Newborn with Panhypopituitarism and Seizures

Trupti Kale | Rachit Patil | Ramesh Pandit

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 1587610
- Case Report

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

Carlos Sánchez-Montenegro | Alejandra Vilanova-Sánchez | ... | Leopoldo Martínez-Martínez

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 7263780
- Case Report

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

Michael T. Zimmermann | Raul A. Urrutia | ... | Paldeep S. Atwal

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 7281023
- Case Report

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

Violet I. Wallerstein | Robert Wallerstein

Case Reports in Genetics -
Special Issue
Volume 2017
- Article ID 2706098
- Case Report

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Kimia Najafi | Roxana Kariminejad | ... | Mohamad Hassan Kariminejad

Case Reports in Genetics -
Special Issue
Volume 2016
- Article ID 6046351
- Case Report

An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Trupti Kale | Melissa Philip

Case Reports in Genetics -
Special Issue
Volume 2016
- Article ID 4645716
- Case Report

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

C. S. Paththinige | N. D. Sirisena | ... | V. H. W. Dissanayake

Case Reports in Genetics -
Special Issue
Volume 2016
- Article ID 5251912
- Case Report

Adult Prader-Willi Syndrome: An Update on Management

Case Reports in Genetics -
Special Issue
Volume 2016
- Article ID 3056053
- Case Report

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Euthymia Vargiami | Athina Ververi | ... | Dimitrios I. Zafeiriou

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