Debate surrounds state laws for down syndrome fact sheets
Noninvasive prenatal testing can detect gene deletions, duplications
Noninvasive prenatal testing spots duchenne muscular dystrophy
In this issue
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith–Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion
Generating a taxonomy for genetic conditions relevant to reproductive planning
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions
Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates
Body proportions in children with Kabuki syndrome
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation
Rare copy number variants implicated in posterior urethral valves
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis
Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods
Sleep disturbance in Mowat–Wilson syndrome
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo–Cardio–Facial) syndrome
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review
Clinical delineation of the PACS1 -related syndrome—Report on 19 patients
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses
5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C : A progressive disease
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
BRAT1 -related disease—identification of a patient without early lethality
KIAA2022 nonsense mutation in a symptomatic female
Gershoni-Baruch syndrome: First report of a surviving child
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1
Massive hemoptysis in Loeys–Dietz syndrome
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome
Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings
A new case of bent bone dysplasia—FGFR2 type and review of the literature
Hepatoblastoma in a male with MECP2 duplication syndrome
Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia
Depression and hyperactivity in two patients with craniofrontonasal syndrome
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome
Phenotypes of 8q13.2–q13.3 microdeletion: Case report and literature review of an emerging recurrent microdeletion syndrome
Signs and symptoms of genetic conditions—A handbook by Louanne Hudgins
Thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation
Correspondence to Vorselaars et al. thoracic aorta dilation in patients with hereditary hemorrhagic telangiectasia due to SMAD4 gene mutation