XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 243-248

  Lubs, Herbert ^a   Abidi, Fatima ^a   Bier, Jo Ann Blaymore ^b   Abuelo, Diane ^b   Ouzts, Lisbeth ^c   Voeller, Kytja ^d   Fennell, Eileen ^d   Stevenson, Roger E ^c   Schwartz, Charles E ^c   Arena, Fernando ^c  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b RHODE ISLAND HOSPITAL   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d UNIVERSITY OF FLORIDA   (United States)

Author keywords

Early death; Gene localization; Syndrome; X linked mental retardation

Indexed keywords

ARTICLE; BRAIN ATROPHY; CHROMOSOME XQ; CLINICAL ARTICLE; DISEASE COURSE; DNA FLANKING REGION; DYSPHAGIA; FACIES; FEMALE; GASTROESOPHAGEAL REFLUX; GENE LOCATION; HUMAN; HYPERTELORISM; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MORTALITY; MUSCLE HYPOTONIA; MYOPATHY; NEUROLOGIC DISEASE; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; SUPERINFECTION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM DISEASES; CHROMOSOME MAPPING; DNA; FATAL OUTCOME; FEMALE; HUMANS; HYPERTELORISM; LINKAGE (GENETICS); LOD SCORE; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; RESPIRATORY TRACT INFECTIONS; SYNDROME; X CHROMOSOME;

EID: 0033066987     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<243::AID-AJMG11>3.0.CO;2-E     Document Type: Article

References (9)

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