Expansion of phenotype of DDX3X syndrome: six new cases.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000289
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000244
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000279
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000287
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
来源期刊:Clinical dysmorphologyDOI:10.1097/mcd.0000000000000298
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000260
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000262
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000282
GATAD2B-related intellectual disability due to parental mosaicism and review of literature.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000288
Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000255
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000241
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000261
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000259
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000252
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000294
UBE2A-related X-linked intellectual disability
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000242
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000277
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000258
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000254
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000275
Does the clinical phenotype of mucolipidosis-III&ggr; differ from its &agr;&bgr; counterpart?: supporting facts in a cohort of 18 patients
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000249
Klippel-Feil syndrome: a review of the literature.
来源期刊:Clinical dysmorphologyDOI:10.1097/mcd.0000000000000301
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000248
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.
来源期刊:Clinical dysmorphologyDOI:10.1097/mcd.0000000000000311
SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000293
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000299
Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000281
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000306
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000269
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
来源期刊:Clinical DysmorphologyDOI:10.1097/MCD.0000000000000250
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.
来源期刊:Clinical dysmorphologyDOI:10.1097/MCD.0000000000000245