Genetic culprit of rare autoinflammatory disorder confirmed
Personalized medicine comes to cystic fibrosis
In this issue
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations
Genome-wide SNP genotyping identifies the Stereocilin ( STRC ) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss
Anthropometric charts for infants with trisomies 21, 18, or 13 born between 22 weeks gestation and term: The VON charts
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1
Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma
The behavioral phenotype of Mowat–Wilson syndrome
The perceived personal control (PPC) questionnaire: Reliability and validity in a sample from the United Kingdom
“ Did you find that out in time ?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely
Effectively training pediatric residents to deliver diagnoses of Down syndrome
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
An 800 kb deletion at 17q23.2 including the MED13 ( THRAP1 ) gene, revealed by aCGH in a patient with a SMC 17p
Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature
Myelodysplastic syndrome in a child with 15q24 deletion syndrome
Report of a mother and daughter with the 12q14 microdeletion syndrome
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation
A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy
Immunodeficiency in Vici syndrome: A heterogeneous phenotype
Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex”
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature
Mosaic upd(7)mat in a patient with Silver–Russell syndrome
Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin