FEDERAL PLAN TO ADVANCE TARGETED DISEASE TREATMENT UNCLEAR ON BENEFITS FOR CHILDREN WITH RARE DISEASES
AUTISM IN SIBLINGS OFTEN CAUSED BY DIFFERENT FAULTY GENES, STUDY SAYS
IN THIS ISSUE
Review of X-Linked Syndromes with Arthrogryposis or Early Contractures—Aid to Diagnosis and Pathway Identification
Stress and Coping in Parents of Children with Prader-Willi Syndrome: Assessment of the Impact of a Structured Plan of Care
Psychiatric Disorders in Children with Prader–Willi Syndrome—Results of a 2-Year Longitudinal Study
Carlos F. Salinas, DMD (April 9, 1941–January 14, 2015)
In Memoriam: S. Harvey Mudd
Twenty-Five Additional Cases of Trisomy 9 Mosaic: Birth Information, Medical Conditions, and Developmental Status
Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
Analysis of Invdupdel(8p) Rearrangement: Clinical, Cytogenetic and Molecular Characterization
Further Supporting Evidence for the SATB2 -Associated Syndrome Found Through Whole Exome Sequencing
Skeletal Overgrowth Syndrome Caused by Overexpression of C-Type Natriuretic Peptide in a Girl with Balanced Chromosomal Translocation, t(1;2)(q41;q37.1)
Schinzel–Giedion Syndrome in two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features
Craniofacial Abnormalities and Developmental Delay in two Families with Overlapping 22q12.1 Microdeletions Involving the MN1 Gene
Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans
Chromosome 1p36.22p36.21 Duplications/Triplication Causes Setleis Syndrome (Focal Facial Dermal Dysplasia type III)
Sex Ratios Among Infants with Birth Defects, National Birth Defects Prevention Study, 1997–2009
Etiology of Non-Immune Hydrops Fetalis: An Update
Fetal Brain Disruption Sequence Versus Fetal Brain Arrest: A Distinct Autosomal Recessive Developmental Brain Malformation Phenotype
A Family of Distal Arthrogryposis Type 5 Due to a Novel PIEZO2 Mutation
A Case Study of Brain Morphometry in Triplets Discordant for Down Syndrome
Expanding the Phenotypic Spectrum in EP300 -Related Rubinstein–Taybi Syndrome
A 7-Month-Old Male with Allan-Herndon-Dudley Syndrome and the Power of T3
A Familial GLI2 Deletion (2q14.2) not Associated with the Holoprosencephaly Syndrome Phenotype
FLCN Intragenic Deletions in Chinese Familial Primary Spontaneous Pneumothorax
De Novo Interstitial Deletion 13q33.3q34 in a Male Patient with Double Outlet Right Ventricle, Microcephaly, Dysmorphic Craniofacial Findings, and Motor and Developmental Delay
MEIS2 Involvement in Cardiac Development, Cleft Palate, and Intellectual Disability
Mutations in FARS2 and Non-Fatal Mitochondrial Dysfunction in two Siblings
Biallelic Mutations in Huntington Disease: A New Case with Just one Affected Parent, Review of the Literature and Terminology
Recurrence of Frontometaphyseal Dysplasia in two Sisters with a Mutation in FLNA and an Atypical Paternal Phenotype: Insights Into Genotype–Phenotype Correlation
Maternal Germinal Mosaicism for SCN1A in Sibs with a Mild form of Dravet Syndrome
Anesthesia in Cri Du Chat Syndrome: Information on 51 Italian Patients
A Case with Neonatal Hyperinsulinemic Hypoglycemia: It is a Characteristic Complication of Sotos Syndrome
Cardiovascular Malformations in Adams–Oliver Syndrome
Erratum to: Osteogenesis Imperfecta: Clinical Diagnosis, Nomenclature, and Severity Assessment