Browsing Molekulare Medizin by Advisor "Pauli, Silke PD Dr."
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Elucidating the pathomechanism behind the neurocristopathy CHARGE syndrome
(2018-02-26)CHARGE syndrome is a complex congenital malformation disorder, caused in more about two-thirds of the cases by heterozygous loss of function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7). The acronym ...