Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene
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DOI: 10.1002/pd.6249
Abstract: A couple were referred for prenatal genetic testing at 31 weeks' gestation due to the presence of mild polyhydramnios and multiple central nervous system (CNS) abnormalities, including borderline ventriculomegaly, possible delayed sulcation, an enlarged cisterna… read more here.
Keywords: diagnosis perching; caused homozygous; diagnosis; syndrome caused ... See more keywords
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
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DOI: 10.1038/ejhg.2017.85
Abstract: Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older… read more here.
Keywords: progressive hereditary; hereditary spastic; paraplegia caused; caused homozygous ... See more keywords
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
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DOI: 10.18240/ijo.2018.06.04
Abstract: AIM To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the… read more here.
Keywords: syndrome caused; caused homozygous; homozygous frameshift; col18a1 ... See more keywords