Molecular evidence of type 2 mosaicism in Gorlin syndrome

British Journal of Dermatology

Volumn 169, Issue 6, 2013, Pages 1342-1345

  Torrelo, A ^a   Hernandez Martin A ^a   Bueno, E ^b   Colmenero, I ^a   Rivera, I ^a   Requena, L ^c   Happle, R ^d   Gonzalez Sarmiento R ^b  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b CSIC   (Spain)

^c Department of Pathology Hospital Del Niño Jesús ^*  (Spain)

^d UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

KERATIN; PROTEIN PATCHED 1; CELL SURFACE RECEPTOR; PATCHED RECEPTORS;

ABDOMEN; AGENESIS; ARM; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASAL CELL NEVUS SYNDROME; BLOOD SAMPLING; BONE; CASE REPORT; CHEEK; CHILD; CORPUS CALLOSUM AGENESIS; EAR; EPITHELIUM; EXON; EYE; EYELID; FACE; FAMILY HISTORY; FATHER; FEMALE; FRONTAL CORTEX; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAMARTOMA; HETEROZYGOTE; HUMAN; HYPERPIGMENTATION; HYPERTRICHOSIS; HYPOPIGMENTATION; LEG; LYMPHOCYTE; MAXILLA; MICROGYRIA; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOSAICISM; NEOPLASM; NOSE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; ODONTOGENIC KERATOCYST; PAPULAR SKIN DISEASE; PAPULE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SKIN; SKIN ATROPHY; SKIN DEFECT; SKIN NODULE; TYPE 2 MOSAICISM; GENETICS; GERMLINE MUTATION; SKIN TUMOR;

BASAL CELL NEVUS SYNDROME; CHILD; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MOSAICISM; MUTATION, MISSENSE; RECEPTORS, CELL SURFACE; SKIN NEOPLASMS;

EID: 84889067385     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12458     Document Type: Article

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