A syndrome combining severe hypotrichosis and macular dystrophy: Absence of mutations in TIMP genes [9]

British Journal of Dermatology

Volumn 143, Issue 4, 2000, Pages 902-904

  Raison Peyron, N ^a   Duval, P A ^b,d   Barneon, G ^c   Durand, L ^a   Arnaud, B ^b   Meynadier, ^b   Hamel, C ^d  

^a HÔPITAL SAINT ELOI   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c Histopathology Center   (India)

^d INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TISSUE INHIBITOR OF METALLOPROTEINASE 3;

ADULT; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; ELECTRORETINOGRAM; FEMALE; GENE MUTATION; HUMAN; HYPOTRICHOSIS; LETTER; MICROSCOPY; PATHOGENESIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SKIN MANIFESTATION; SYNDROME;

ADULT; FEMALE; HUMANS; HYPOTRICHOSIS; MACULAR DEGENERATION; MUTATION; SYNDROME; TISSUE INHIBITOR OF METALLOPROTEINASES;

EID: 0033745344     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03803.x     Document Type: Letter

References (8)

1. Hereditary hypotrichosis of the scalp
2. Hypotrichosis with spondylo-epimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome
3. A previously undescribed condition: Tricho-odonto-onycho-dermal syndrome. A review of the tricho-odonto-onychial subgroup of ectodermal dysplasias
4. Congenital universal alopecia, mental deficiency and microcephaly in two sibs
5. Mutations in the tissue inhibitor of metalloproteinase-3 (TIMP3) in patients with Sorsby's fundus dystrophy
6. Unusual association of juvenile macular dystrophy with congenital hypotrichosis: Occurrence in two siblings suggesting autosomal recessive inheritance
7. Retinal pigment epithelium function in alopecia areata
8. Cone-rod congenital amaurosis associated with congenital hypertrichosis: An autosomal recessive condition