Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 2001-2004

  Guazzarotti, Laura ^a   Caprio, Cristiana ^a   Rinne, Tuula K ^b   Bosoni, Mariangela ^a   Pattarino, Giulia ^a   Mauri, Silvia ^a   Tadini, Gian Luca ^a   Van Bokhoven, Hans ^c   Zuccotti, Gian Vincenzo ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c University Medical Center   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; TP63 PROTEIN, HUMAN; TRANSACTIVATOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ANAMNESIS; BONE MINERALIZATION; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE ASSOCIATION; ECHOGRAPHY; ECTRODACTYLY; ESTROGEN THERAPY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INTERNAL FEMALE GENITALIA DYSGENESIA; LETTER; LIMB MAMMARY SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; TP63 GENE; ARTICLE; BREAST; CONGENITAL MALFORMATION; FEMALE GENITAL SYSTEM; FRAMESHIFT MUTATION; GENETICS; GENOTYPE; GONADAL DYSGENESIS; LIMB MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BREAST; FEMALE; FRAMESHIFT MUTATION; GENITALIA, FEMALE; GENOTYPE; GONADAL DYSGENESIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIMB DEFORMITIES, CONGENITAL; PHENOTYPE; SYNDROME; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 49649111445     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32371     Document Type: Letter

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