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SCID added to national newborn screening standards
In this issue
Hedgehog signaling update
New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication
Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
The face of Noonan syndrome: Does phenotype predict genotype
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart
NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1
Creatine transporter deficiency in two half-brothers
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease
Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate
Familial syndrome resembling Aarskog syndrome
The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases
Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome
Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
Twins with omphalocele in Denmark (1970-1989)
Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance
Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review
TBX2 gene duplication associated with complex heart defect and skeletal malformations
Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features
Aortic dissection and moyamoya disease in Turner syndrome
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome
Co-occurrence of Prader-Willi and Sotos syndromes
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 ( AUTS2 ) gene in a patient with autism
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood
Carmi syndrome with congenital heart defects
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome
Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation
New report of a familial case of Moebius syndrome presenting skeletal findings
Book review
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity
Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity
Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient