Two Siblings with Autosomal Recessive Primary Microcephaly due to Novel Compound Heterozygous Null Variants in the ASPM Gene.

Sirisena N.D., Udagedara Samaranayake M.J.E., Paththinige C.S., Hughes J., Kruszka P., Muenke M., and Dissanayake V.H.W.
9th International Conference on Birth Defects and Disabilities in the Developing World “Health for all: Accelerate Efforts for Birth Defects Prevention and Care” held from 23 to 26 February 2020, Colombo, Sri Lanka. (Abstracted in the conference proceedings, p. 170).
Publication year: 2020