Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters - A new syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 1, 2008, Pages 8-14

  Somech, Raz ^a   Somers, Gino R ^a   Chitayat, David ^a   Grunebaum, Eyal ^a   Atkinson, Adelle ^a   Kolomietz, Elena ^b   Roifman, Chaim M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Gonadal dysgenesis; Immunodeficiency; Lethal; Lung fibrosis; XX

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

ARTICLE; AUTOPSY; CASE REPORT; CELLULAR IMMUNODEFICIENCY; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE COURSE; FEMALE; GONADAL DYSGENESIS; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; KARYOTYPE 46,XX; LUNG FIBROSIS; NEWBORN; NEWBORN MORTALITY; PRIORITY JOURNAL; SYNDROME DELINEATION;

BIOLOGICAL MARKERS; CHROMOSOME BANDING; CONSANGUINITY; DNA; FATAL OUTCOME; FEMALE; FIBROSIS; GENES, RECESSIVE; GONADAL DYSGENESIS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; LUNG; LYMPHOPENIA; MONOCYTES; NUCLEIC ACID HYBRIDIZATION; SIBLINGS; SYNDROME;

EID: 37549059107     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32014     Document Type: Article

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