Disease: Megalencephaly cutis marmorata telangiectatica congenita
- A CASE OF MACROCEPHALY-CAPILLARY MALFORMATION SYNDROME PRESENTING WITH HOT WATER EPILEPSY
- An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
- Apnea and macrocephaly-cutis marmorata telangiectatica congenita
- Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences
- Capillary malformations: a classification using specific names for specific skin disorders
- Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
- Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome
- Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome
- Discordant monozygotic twins for macrocephaly-capillary malformation
- Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome
- Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
- Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update
- Macrocephaly-capillary malformation presenting with fetal arrhythmia
- Macrocephaly-capillary malformation: a report of four Chinese patients and literature review
- Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
- Macrocephaly-capillary malformation. A neonatal case
- Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities
- Management of Vascular Anomalies and Related Conditions Using Suction-Assisted Tissue Removal
- Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report
- Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
- Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach
- MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature
- MRI findings in macrocephaly-cutis marmorata telangiectatica congenita
- Neurocutaneous vascular syndromes
- Optimization by mixture design of chitosan/multi-phase calcium phosphate/BMP-2 biomimetic scaffolds for bone tissue engineering
- Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)
- Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report
- Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome
- Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome
- Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita
- Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism
- Syndromes with vascular skin anomalies
- The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <em>PIK3CA</em>-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
- Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study