Might diet play a role in autism?
Experimental therapy for neurofibromatosis I shows promise
In this issue
A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4–p11.21
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders
Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study
Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences
Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype
Complex II deficiency—A case report and review of the literature
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
Maternal attitudes to newborn screening for fragile X syndrome
Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes
Four new patients with Gomez–Lopez-Hernandez syndrome and proposed diagnostic criteria
A boy with partial trisomy of chromosome 3q24–q28 from paternal balanced insertion and multiple congenital anomalies
Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy
Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
Pure de novo partial trisomy 6p in a girl with craniosynostosis
Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature
Singleton–Merten syndrome: An autosomal dominant disorder with variable expression
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome
NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay
Germline mutations in FGF receptors and medulloblastomas
Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis
A new NF1 variant in a patient with atypical manifestations
Exercise capacity impairment in individuals with neurofibromatosis type 1
Height correlations between parents and offspring in achondroplasia population
How to describe the clinical spectrum in Pompe disease?
Response to the letter “How to describe the clinical spectrum in Pompe disease?”
Corrigendum to: “Myopathy in a 20-Year-Old Female Patient With D4ST-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation, Am J Med Genet A. 2012 Apr; 158A(4):850–855”