Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Author:

Nagy R,Wang H,Albrecht B,Wieczorek D,Gillessen- Kaesbach G,Haan E,Meinecke P,de la Chapelle A,Westman JA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Congenital familial dwarfism with cephaloskeletal dysplasia.;Taybi;Radiology,1967

2. Uber einen neuen typ des primordialen minderwuchses: der brachymele primordiale minderwuchs.;Majewski;Monatsschr Kinderheilkd,1976

3. Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - osteodysplastic primordial dwarfism type III.;Majewski;Am J Med Genet,1982

4. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.;Winter;Am J Med Genet,1985

5. Congenital familial dwarfism with cephalo-skeletal dysplasia (Taybi-Linder syndrome).;Thomas;Ann Radiol (Paris),1976

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