Browsing by Author "Makhdoom, Ehtisham Ul Haq"
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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
Makhdoom, Ehtisham Ul Haq; Waseem, Syeda Seema; Iqbal, Maria; Abdullah, Uzma; Hussain, Ghulam; Asif, Maria; Budde, Birgit; Höhne, Wolfgang; Tinschert, Sigrid; Saadi, Saadia Maryam; Yousaf, Hammad; Ali, Zafar; Fatima, Ambrin; Kaygusuz, Emrah; Khan, Ayaz; Jameel, Muhammad; Khan, Sheraz; Tariq, Muhammad; Anjum, Iram; Altmüller, Janine; Thiele, Holger; Höning, Stefan (MDPI, 2021)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 ...