Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease
characterised by thymine-uraciluria in homozygous deficient patients and has been associated …

… Engelbert RHH, Custers JWM, Net van der J, Graaf van der Y, Beemer FA, Helders PJM.
Functional outcome in osteogenesis imperfecta: disability profiles using the PEDI. Pediatr Phys …

Glycerol kinase deficiency (GKD) is an X-linked recessive disorder. There are two types, an
isolated form and a complex form. We review the clinical, biochemical and molecular genetic …

We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical
region of chromosome 22q11. Twenty-eight percent of the cases where parents had been …

Familial cylindromatosis is an autosomal dominant genetic predisposition to multiple tumours
of the skin appendages. The susceptibility gene (CYLD) has previously been localized to …

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans | Nature
Genetics Skip to main content Thank you for visiting nature.com. You are using a browser version …

Glycogen storage disease type II (GSD II) is an autosomal recessive myopathy. Early and
late-onset phenotypes are distinguished–infantile, juvenile and adult. Three mutations in the …

OBJECTIVE: To examine psychopathology and influence of intelligence level on psychiatric
symptoms in children with the 22q11.2 deletion syndrome (22q11DS). METHOD: Sixty …

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia,
and cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (…

Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is
a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin …