Syeda Seema Waseem
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View article: A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family Open
Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosom…
View article: Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ Open
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intr…
View article: An update of pathogenic variants in <i>ASPM</i>, <i>WDR62, CDK5RAP2</i>,<i> STIL, CENPJ,</i> and<i> CEP135</i> underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
An update of pathogenic variants in <i>ASPM</i>, <i>WDR62, CDK5RAP2</i>,<i> STIL, CENPJ,</i> and<i> CEP135</i> underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan Open
Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which m…
View article: Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome Open
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was disco…