Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
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DOI: 10.1186/s12886-020-01603-w
Abstract: Background 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this… read more here.
Keywords: syndrome; 22q11 duplication; coloboma; optic nerve ... See more keywords
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
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DOI: 10.1186/s13052-019-0690-2
Abstract: BackgroundCongenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was… read more here.
Keywords: congenital nephrotic; 22q11 duplication; duplication syndrome; syndrome ... See more keywords