Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?
Guazzarotti
Laura
L
Department of Pediatrics, University of Milan, Milan, Italy. guazza@yahoo.com
Caprio
Cristiana
C
Rinne
Tuula K
TK
Bosoni
Mariangela
M
Pattarino
Giulia
G
Mauri
Silvia
S
Tadini
Gian Luca
GL
van Bokhoven
Hans
H
Zuccotti
Gian Vincenzo
GV
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001940:Breast / Q000002:abnormalities*; D005260:Female; D016368:Frameshift Mutation; D005836:Genitalia, Female / Q000002:abnormalities*; D005838:Genotype; D006059:Gonadal Dysgenesis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017880:Limb Deformities, Congenital / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins