Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Figure 3

MCPH families showing autosomal and X-linked mode of disease segregation. The filled circles and squares show affected females and males. The open circles and squares show the unaffected individuals. Consanguineous marriage is represented by double lines. The (-/-) sign show the recessive homozygous individuals and (-/+). Patient’s facial characteristics represented in photographs reduced head circumference with no other facial dysmorphism. Family MC-3 did not grant consent for their photographs.