Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P.
Tomaselli S, et al. Among authors: mazzilli mc.
Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665.
Hum Mutat. 2008.
PMID: 18085567