Cover Image, Volume 173A, Number 10, October 2017
Table of Contents, Volume 173A, Number 10, October 2017
Publication schedule for 2017
Genome‐wide cell free fetal DNA screening spots variations standard screening doesn't : Diagnostic testing data needed to validate results and prove accuracy
New intellectual disability syndrome identified : WDR26 haploinsufficiency is rare but could provide explanations to some patients
In this issue
Vitamin D levels in Smith‐Lemli‐Opitz syndrome
Best practices in peri‐operative management of patients with skeletal dysplasias
Lin‐Gettig syndrome : Craniosynostosis expands the spectrum of the KAT6B related disorders
Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients
Congenital disorders of glycosylation : The Saudi experience
Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant
Three cases of multi‐generational Pompe disease : Are current practices missing diagnostic and treatment opportunities?
Factors related to home health‐care transition in trisomy 13
The pregnancy in neurofibromatosis 1 : A retrospective register‐based total population study
Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays
Congenital neurodevelopmental anomalies in pediatric and young adult cancer
Clinical and molecular characterization of de novo loss of function variants in HNRNPU
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation : Intrafamilial phenotypic variability in four siblings and review of literature
Prevalence of gastrointestinal symptoms in Angelman syndrome
Estimation of live birth and population prevalence of Down syndrome in nine U.S. states
Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay
The phenotype of EZH2 haploinsufficiency—1.2‐Mb deletion at 7q36.1 in a child with tall stature and intellectual disability
Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies
Expanding the phenotype of DST‐related disorder : A case report suggesting a genotype/phenotype correlation
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia
Epilepsy in fragile‐X‐syndrome mimicking panayiotopoulos syndrome : Description of three patients
A human case of SLC35A3‐related skeletal dysplasia
Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome
ALG13‐CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome
New intragenic rearrangements in non‐Finnish mulibrey nanism
Neonatal fractures as a presenting feature of LMOD3‐associated congenital myopathy
Paternal transmission of a FMR1 full mutation allele
Interstitial deletion 5p14.1‐p15.2 and 5q14.3‐q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
The role of IQSEC2 in syndromic intellectual disability : Narrowing the diagnostic odyssey
Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease
Co‐occurrence of Sturge–Weber syndrome and Klippel–Trenaunay–Weber syndrome phenotype : Consideration of the historical aspect
Additional report on Moreno‐Nishimura‐Schmidt overgrowth syndrome
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome
A splice‐site variant in ANKRD11 associated with classical KBG syndrome
Continuous hypomethylation of the KCNQ1OT1 : TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome