Megalencephaly-Capillary Malformation Syndrome Latest Advances
Find the Latest Research About Megalencephaly-Capillary Malformation Syndrome
Last Updated: 02/24/2026
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Found 36 publications
PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant.
Journal: Pediatric neurology
Published: May 01, 2024
Optimization by mixture design of chitosan/multi-phase calcium phosphate/BMP-2 biomimetic scaffolds for bone tissue engineering.
Journal: Journal of the mechanical behavior of biomedical materials
Published: November 12, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Journal: American journal of medical genetics. Part A
Published: September 29, 2023
Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.
Journal: BMJ case reports
Published: December 26, 2022
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Journal: Orphanet journal of rare diseases
Published: November 07, 2022
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
Journal: European journal of medical genetics
Published: October 18, 2022
Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.
Journal: Advances in therapy
Published: April 28, 2022
The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Journal: Cold Spring Harbor molecular case studies
Published: January 04, 2022
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Journal: American journal of medical genetics. Part A
Published: September 17, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Journal: Clinical genetics
Published: September 18, 2020
Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: May 16, 2020
Cutis marmorata telangiectatica congenita: a literature review.
Journal: Orphanet journal of rare diseases
Published: June 30, 2019
Last Updated: 02/24/2026