New form of glycosylation disorder identified
Geneticist to head NICHD
In this issue
Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?
Examining the evidence for vascular pathogenesis of selected birth defects
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
Folic acid flour fortification: Impact on the frequencies of 52 congenital anomaly types in three South American countries
Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review
Recurrence risk for offspring of twins discordant for oral cleft: A population-based cohort study of the Danish 1936-2004 cleft twin cohort
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome
Communication of biobanks' research results: What do (potential) participants want?
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1 , in patients with CDH
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain
Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features
Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain
The ancient Egyptian dwarfs of the Walters Art Museum
Barber-Say syndrome in a father and daughter
Oral and dental abnormalities in Barber-Say syndrome
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype
Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation
Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities
Further characterization of microdeletion syndrome involving 2p15-p16.1
Mutations in the G6PC3 gene cause Dursun syndrome
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype
Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
Tissue-limited mosaicism for monosomy 13
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)
Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome
R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG
Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations
A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10
Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement
Valproic acid and ADHD symptoms in Fragile X syndrome: More evidence is needed
Response to “Valproic Acid and ADHD Symptoms in Fragile X Syndrome: More Evidence Is Needed”