| Literature DB >> 9375913 |
M Di Rocco1, P Picco, A Arslanian, G Restagno, F Perfumo, A Buoncompagni, M Gattorno, C Borrone.
Abstract
We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations and argue that both patients might be affected by a new syndrome.Entities:
Mesh：
Year: 1997 PMID： 9375913 DOI： 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299