A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
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DOI: 10.1111/cge.14126
Abstract: We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure‐to‐thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common… read more here.
Keywords: genitourinary malformations; developmental delay; proser1; delay hypotonia ... See more keywords
Multiple Genitourinary Malformations Associated with Malformations of Other Organs – As a Rarity of Case Report
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DOI: 10.26502/jsr.100200122
Abstract: Congenital anomalies are not uncommon. Urogenital disorders can be isolated or associated with other malformations, but they are usually misdiagnosed at birth and found in physical examination or as urologic signs at adolescence. This case… read more here.
Keywords: associated malformations; multiple genitourinary; case; genitourinary malformations ... See more keywords