SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Stokes, B; Berger, SI; Hall, BA; Weiss, K; Martinez, AF; Hadley, DW; Murdock, DR; Ramanathan, S; Clark, RD; Roessler, E; Kruszka, P; Muenke, M

Kruszka, P (reprint author), NHGRI, Med Genet Branch, NIH, 35 Convent Dr,Room 1B207, Bethesda, MD 20892 USA.

CONGENITAL ANOMALIES, 2018; 58 (1): 29

Abstract

Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously ......

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