Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteoporosis initially presenting with neonatal thrombocytopenia

Journal of Perinatology

Volumn 24, Issue 5, 2004, Pages 312-314

  Shin, Youn Jeong ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; CALCITRIOL; CHLORIDE CHANNEL; CHLORIDE ION; GAMMA INTERFERON; IMMUNOGLOBULIN; PREDNISOLONE;

ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; BLOOD EXAMINATION; BLOOD SMEAR; BONE MARROW TRANSPLANTATION; BONE RADIOGRAPHY; CASE REPORT; CESAREAN SECTION; DIET THERAPY; DISEASE COURSE; DRUG MEGADOSE; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GESTATIONAL AGE; HUMAN; KOREA; NEWBORN; NUCLEOTIDE SEQUENCE; OUTCOMES RESEARCH; PATIENT REFERRAL; PREMATURITY; PRENATAL CARE; SYMPTOMATOLOGY; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

ASIAN CONTINENTAL ANCESTRY GROUP; CHLORIDE CHANNELS; CHROMOSOME DELETION; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; KOREA; OSTEOPETROSIS; POINT MUTATION; THROMBOCYTOPENIA;

EID: 2542505380     PISSN: 07438346     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.jp.7211081     Document Type: Article

References (16)

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