Terkko Navigator / Clinical Dysmorphology

Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

A rare mutation of retinoic acid receptor-[beta] associated with lethal neonatal Matthew-Wood syndrome.

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings.

Meier-Gorlin syndrome: an additional case report in an adult woman.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

A rare mutation of retinoic acid receptor-[beta] associated with lethal neonatal Matthew-Wood syndrome.

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings.

Meier-Gorlin syndrome: an additional case report in an adult woman.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

UBE2A-related X-linked intellectual disability.

Does the clinical phenotype of mucolipidosis-III[gamma] differ from its [alpha][beta] counterpart?: supporting facts in a cohort of 18 patients.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Type VI syndactyly with skeletal dysplasia: a new syndrome?.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Ophthalmic manifestations associated with RARB mutations.

Congenital lateral abdominal wall defect in two Congolese children.

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

UBE2A-related X-linked intellectual disability.

Does the clinical phenotype of mucolipidosis-III[gamma] differ from its [alpha][beta] counterpart?: supporting facts in a cohort of 18 patients.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Type VI syndactyly with skeletal dysplasia: a new syndrome?.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Ophthalmic manifestations associated with RARB mutations.

Congenital lateral abdominal wall defect in two Congolese children.

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.