Microphthalmia with linear skin defects syndrome

Pediatric Dermatology

Volumn 30, Issue 6, 2013, Pages

  García Rabasco, Ana ^a   De Unamuno, Blanca ^a   Martínez, Francisco ^b   Febrer Bosch, Isabel ^a   Alegre De Miquel, Víctor ^a  

^a HOSPITAL GENERAL UNIVERSITARIO DE VALENCIA   (Spain)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BORDERLINE STATE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CORPUS CALLOSUM AGENESIS; CYTOGENETICS; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XX; MICROPHTHALMIA; MICROPHTHALMIA WITH LINEAR SKIN DEFECT SYNDROME; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN APLASIA; SKIN DEFECT; SYNDACTYLY; SYSTOLIC HEART MURMUR; X CHROMOSOME INACTIVATION;

CHILD; CHROMOSOMES, HUMAN, X; DERMIS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MICROPHTHALMOS; SKIN ABNORMALITIES; X CHROMOSOME INACTIVATION;

EID: 84887623141     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2012.01735.x     Document Type: Article

References (5)

1. Happle R, Daniels O, Koopman RJJ,. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 1993; 47: 710-713.
2. Wimplinger I, Morleo M, Rosenberger G, et al., Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet 2006; 79: 878-889.
3. Wimplinger I, Shaw GM, Kutsche K,. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? Mol Vis 2007; 13: 1475-1482.
4. Harmsen MB, Azzarello-Burri S, García González MM, et al., Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet 2009; 17: 1207-1215.
5. Wimplinger I, Rauch A, Orth U, et al., Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Eur J Genet 2007; 50: 421-431.