COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02042-4
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in… read more here.
Keywords: potential novel; cause; col4a1 mutations; cakut ... See more keywords
Further refinement of COL4A1 and COL4A2 related cortical malformations.
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DOI: 10.1016/j.ejmg.2018.10.004
Abstract: Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed… read more here.
Keywords: col4a1 col4a2; col4a1 mutations; cortical malformations; refinement col4a1 ... See more keywords
Abstract TMP23: Fetal Intraparenchymal Hemorrhage In Col4a1/2-related Disorders
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DOI: 10.1161/str.54.suppl_1.tmp23
Abstract: Introduction: COL4A1/A2 mutations affecting the alpha 1 and 2 chains of type IV collagen are increasingly recognized as a potential cause of intracranial hemorrhage across the lifespan. We aim to describe fetal MRI findings and… read more here.
Keywords: hemorrhage; col4a1 mutations; iph; col4a1 ... See more keywords
Neurologic phenotypes associated with COL4A1/2 mutations
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DOI: 10.1212/wnl.0000000000008787
Abstract: In the article “Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease” by Zagaglia et al.,1 the text for “3/M, 5 years” under the “Mutation Gene” column in supplementary table 3a should read… read more here.
Keywords: neurologic phenotypes; col4a1 mutations; phenotypes associated; associated col4a1 ... See more keywords