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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome.
Turek-Plewa J, Eckersdorf-Mastalerz A, Kaluzewski B, Helszer Z, Trzeciak WH.
Turek-Plewa J, et al. Among authors: eckersdorf mastalerz a.
Fertil Steril. 2006 Jun;85(6):1822.e1-4. doi: 10.1016/j.fertnstert.2005.11.063.
Fertil Steril. 2006.
PMID: 16759930
Free article.
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