Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases

American Journal of Medical Genetics

Volumn 137 A, Issue 2, 2005, Pages 190-198

  Morleo, Manuela ^a   Pramparo, Tiziano ^b   Perone, Lucia ^a   Gregato, Giuliana ^b   Le Caignec, Cedric ^c   Mueller, Robert F ^d   Ogata, Tsutomu ^e   Raas Rothschild, Annick ^f   De Blois, Marie Christine ^g   Wilson, Louise C ^h   Zaidman, Gerald ⁱ   Zuffardi, Orsetta ^b   Ballabio, Andrea ^a,j   Franco, Brunella ^a,j  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c Service de Genetique Medicale   (France)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ WESTCHESTER MEDICAL CENTER   (United States)

^j UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

Male lethal; MLS; X linked dominant; Xp22

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME ARM; CHROMOSOME DELETION X; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INFANT; MICROPHTHALMIA; MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN DEFECT; SYMPTOM; SYNDROME; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MICROPHTHALMOS; PHYSICAL CHROMOSOME MAPPING; SKIN ABNORMALITIES; SYNDROME;

EID: 24344492701     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30864     Document Type: Article

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