Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
Yamasaki M, Nonaka M, Suzumori N, Nakamura H, Fujita H, Namba A, Kamei Y, Yamada T, Pooh RK, Tanemura M, Sudo N, Nagasaka M, Yoshioka E, Shofuda T, Kanemura Y.
Yamasaki M, et al.
J Neurosurg Pediatr. 2011 Oct;8(4):411-6. doi: 10.3171/2011.7.PEDS10531.
J Neurosurg Pediatr. 2011.
PMID: 21961551
The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 female (prior to 2004) and 4 male fetuses. Of the 7 fetuses, 3 (1 male and 2 female) carried L1CAM mutations. Of these 3, 1 pre …
The authors report on 7 fetal genetic analyses that were performed at the request of families carrying L1CAM mutations, involving 3 f …