The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G.
Zollino M, et al.
Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14.
Eur J Med Genet. 2012.
PMID: 22564756
Review.
Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, consisting mainly of abnormal retinal pigmentation, but also retinitis pigmentosa, strabismu …
Clinically, the ring 14 syndrome is characterized by a recognizable phenotype of shortness of stature, distinctive facial appearance, microc …