Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

Journal of Medical Genetics

Volumn 45, Issue 11, 2008, Pages 731-737

  Fischer, S ^a   Kohlhase, J ^b   Bohm D ^b   Schweiger, B ^a   Hoffmann, D ^c   Heitmann, M ^a   Horsthemke, Bernhard ^a   Wieczorek, D ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b Praxis fuer Humangenetik Freiburg   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; GENOMIC DNA; METHIONINE; PROMYELOCYTIC LEUKEMIA ZINC FINGER PROTEIN; UNCLASSIFIED DRUG; VALINE;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; BONE DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME 11; CHROMOSOME DELETION; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; GENITAL MALFORMATION; GONAD DEVELOPMENT; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SKELETON MALFORMATION;

ANIMALS; BONE DISEASES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; FACE; GENITAL DISEASES, MALE; GROWTH DISORDERS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MICE; MICROCEPHALY; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

MUS;

EID: 56049094346     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.059451     Document Type: Article

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