Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 786-790

  Staropoli, John F ^a   Xin, Winnie ^a   Sims, Katherine B ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME B; DOPAMINE; NORADRENALIN; PROSTACYCLIN; SEROTONIN; SILDENAFIL;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME XP; DEVELOPMENTAL DISORDER; EYE EXAMINATION; GENE; GENE DELETION; GENE LOCUS; GENE SEGREGATION; HUMAN; IDIOPATHIC DISEASE; MALE; NORRIE DISEASE; NORRIE DISEASE GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCHOOL CHILD; TRANSTHORACIC ECHOCARDIOGRAPHY; VITREORETINOPATHY;

BASE SEQUENCE; BLINDNESS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HUMANS; HYPERTENSION, PULMONARY; INFANT; MALE; NERVE TISSUE PROTEINS; NERVOUS SYSTEM DISEASES; PEDIGREE; SPASMS, INFANTILE;

EID: 78149307636     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.079301     Document Type: Article

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