Genodermatoses caused by genetic mosaicism

European Journal of Pediatrics

Volumn 171, Issue 12, 2012, Pages 1725-1735

  Vreeburg, M ^a   Van Steensel, M A M ^a,b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Blaschko line; Genetic mosaicism; Lethal gene; X linked

Indexed keywords

STATIN (PROTEIN);

ALBERS SCHOENBERG DISEASE; ALBRIGHT SYNDROME; ANGIOOSTEOHYPERTROPHY SYNDROME; CHIMERA; CHONDRODYSPLASIA PUNCTATA; CHORISTOMA; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CLINICAL PRACTICE; CONGENITAL DISORDER; CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECT; CONGENITAL SKIN DISEASE; ECTODERMAL DYSPLASIA; EMBRYO DEVELOPMENT; ERYTHEMA; GENE DELETION; GENE SILENCING; HUMAN; HYPERPIGMENTATION; HYPOPHOSPHATEMIC RICKETS; HYPOPIGMENTATION; ICHTHYOSIS; INCONTINENTIA PIGMENTI; LETHAL GENE; LICHENOID ERUPTION; LYMPHEDEMA; MITOTIC RECOMBINATION; MOSAICISM; MULTIPLE CANCER; MUTATION; NOONAN SYNDROME; OSTEOPENIA; PALLISTER KILLIAN SYNDROME; POINT MUTATION; PRIORITY JOURNAL; PSEUDARTHROSIS; PSYCHOMOTOR RETARDATION; REVIEW; SEBACEOUS NEVUS; SKIN MANIFESTATION; X CHROMOSOME INACTIVATION; CHILD; CHROMOSOME MAP; GENETIC SCREENING; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PIGMENT DISORDER; SKIN DISEASE;

CHILD; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HUMANS; MOSAICISM; PHENOTYPE; PIGMENTATION DISORDERS; SKIN DISEASES, GENETIC;

EID: 84879158803     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1855-9     Document Type: Review

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