Case Reports in Genetics

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

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

Adult Prader-Willi Syndrome: An Update on Management

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Case Reports in Genetics

Table of Contents

Table of Contents: 2016

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

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

Adult Prader-Willi Syndrome: An Update on Management

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa