Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and Investigation of candidate genes

Journal of Investigative Dermatology

Volumn 119, Issue 3, 2002, Pages 692-698

  Sprecher, Eli ^a   Itin, Peter ^b   Whittock, Neil V ^c   McGrath, John A ^c   Meyer, Rudolph ^d   DiGiovanna, John J ^e,f   Bale, Sherri J ^g,h   Uitto, Jouni ^a   Richard, Gabriele ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d NIH ^*  (Switzerland)

^e NATIONAL CANCER INSTITUTE   (United States)

^f RHODE ISLAND HOSPITAL   (United States)

^g NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^h GENEDX   (United States)

Author keywords

Dermatoglyphics; Ectodermal dysplasia; Gene mapping; Hyperpigmentation; Palmoplantar keratoderma

Indexed keywords

COMPLEMENTARY DNA; KERATIN;

ARTICLE; CHROMOSOME 17Q; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DERMATOPATHIA PIGMENTOSA RETICULARIS; DISEASE ASSOCIATION; DNA FLANKING REGION; ECTODERMAL DYSPLASIA; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC ORGANIZATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MUTATIONAL ANALYSIS; NAEGELI FRANCESCHETTI JADASSOHN SYNDROME; ONTOGENY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 0036379424     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.01855.x     Document Type: Article

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