Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.
about
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesisA mosaic activating mutation in AKT1 associated with the Proteus syndromeSomatic mosaic activating mutations in PIK3CA cause CLOVES syndromeDe novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesAssessment and management of the orthopedic and other complications of Proteus syndromeIdentification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association programIdentification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndromeOcular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and managementSomatic mosaicism in the human genomeNeurocutaneous Manifestations of Genetic MosaicismNew insights into the generation and role of de novo mutations in health and diseaseAdvances in Skeletal Dysplasia GeneticsSturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQPI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaEncephalocraniocutaneous lipomatosis: neurologic manifestations.Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutationsSturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients.Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.Cutaneous mosaicism of lethal mutations.Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes.Partial Encephalocraniocutaneous Lipomatosis SyndromeLeveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation.Brain Vascular Malformation Consortium: Overview, Progress and Future DirectionsAsymmetry: molecular, biologic, embryopathic, and clinical perspectives.Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Genital tract tumors in Proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature.Review of neurological manifestations in 196 patients with sebaceous naevi.Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.Update on the molecular genetics of vascular anomalies.Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)Pathophysiology of Sturge-Weber syndrome.Genetic Variants Associated with Port-Wine Stains.The Contribution of Mosaic Variants to Autism Spectrum Disorder.Focal activation of a mutant allele defines the role of stem cells in mosaic skin disordersAutosomal dominant mesomandibular fibro-osseous dysplasia: a self-resolving inherited fibro-osseous lesion of the jawsMcCune-Albright syndrome: clinical picture and natural history in children and adolescents.The challenges of Proteus syndrome: diagnosis and management.Mosaic RASopathies.
P2860
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P2860
Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
1987年论文
@zh
1987年论文
@zh-cn
name
Lethal genes surviving by mosa ...... th defects involving the skin.
@en
type
label
Lethal genes surviving by mosa ...... th defects involving the skin.
@en
prefLabel
Lethal genes surviving by mosa ...... th defects involving the skin.
@en
P1476
Lethal genes surviving by mosa ...... th defects involving the skin.
@en
P2093
P304
P356
10.1016/S0190-9622(87)80249-9
P407
P577
1987-04-01T00:00:00Z