The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006188
Abstract: The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA. It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with… read more here.
Keywords: mcap syndrome; megalencephaly capillary; mcap; report ... See more keywords
Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249587
Abstract: Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary… read more here.
Keywords: diagnosis; megalencephaly capillary; malformation syndrome; prenatal diagnosis ... See more keywords
Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies
Sign Up to like & getrecommendations! Published in 2020 at "Case Reports in Dentistry"
DOI: 10.1155/2020/8826945
Abstract: Background Megalencephaly-capillary malformation (MCAP) is a rare overgrowth syndrome caused by postzygotic activating mutations in the PIK3CA gene. Aim To illustrate the benefits of gingival biopsy in the genetic diagnosis of overgrowth syndromes. Design Gingival… read more here.
Keywords: overgrowth syndromes; mosaicism; gingival biopsy; megalencephaly capillary ... See more keywords