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Volumn 91, Issue 1, 2000, Pages 83-85
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Identification of a mutation in the ZNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
a
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Author keywords
[No Author keywords available]
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Indexed keywords
ALPHA THALASSEMIA;
CASE REPORT;
CLINICAL FEATURE;
CRYPTORCHISM;
FACE MALFORMATION;
GENETIC ANALYSIS;
GROWTH RETARDATION;
HUMAN;
LETTER;
MALE;
MALFORMATION SYNDROME;
MENTAL DEFICIENCY;
MICROCEPHALY;
PRIORITY JOURNAL;
SMITH FINEMAN MYERS SYNDROME;
CHEMISTRY;
CONGENITAL MALFORMATION;
FACE;
FAMILY HEALTH;
FEMALE;
FRAMESHIFT MUTATION;
GENE DELETION;
GENETICS;
MULTIPLE MALFORMATION SYNDROME;
MUTATION;
NOTE;
NUCLEOTIDE SEQUENCE;
PEDIGREE;
POINT MUTATION;
SEQUENCE HOMOLOGY;
SYNDROME;
ATRX PROTEIN, HUMAN;
DNA;
HELICASE;
NUCLEAR PROTEIN;
ABNORMALITIES, MULTIPLE;
BASE SEQUENCE;
DNA;
DNA HELICASES;
DNA MUTATIONAL ANALYSIS;
FACE;
FAMILY HEALTH;
FEMALE;
FRAMESHIFT MUTATION;
HUMANS;
MALE;
MENTAL RETARDATION;
MICROCEPHALY;
MUTATION;
NUCLEAR PROTEINS;
PEDIGREE;
POINT MUTATION;
SEQUENCE DELETION;
SEQUENCE HOMOLOGY, NUCLEIC ACID;
SYNDROME;
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EID: 0033624906
PISSN: 01487299
EISSN: None
Source Type: Journal
DOI: 10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N Document Type: Letter |
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Times cited : (41)
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References (17)
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