Isidor, Bertrand

Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? [electronic resource] - American journal of medical genetics. Part A Aug 2013 - 1829-32 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36021 doi


Abnormalities, Multiple
Brain Diseases--genetics
Calcinosis--genetics
Child, Preschool
Duodenal Obstruction--genetics
Dwarfism--genetics
Exudates and Transudates
Genital Diseases, Male--genetics
Humans
Intestinal Atresia
Male
Microcephaly--genetics
Penis--abnormalities
Phenotype
Polydactyly--genetics
Retinal Telangiectasis--genetics
Syndrome
Tomography, X-Ray Computed