Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?

Another Italian family with mandibuloacral dysplasia: Why does it seem more frequent in Italy?

Source :

• American Journal of Medical Genetics [ 0148-7299 ] ; 1986-06.

English descriptors

• KwdEn :
  • Anomaly, Ascertainment, Autosomal, Autosomal recessive, Autosomal recessive inheritance, Birth defects, Calcification, Central italy, Chin recession, Clavicular, Clavicular hypoplasia, Cleidocranial dysostosis, Clinical delineation, Clinical findings, Cutaneous atrophy, Distal phalanx, Dysplasia, Facial bones, Founder effect, Frequent findings, Gene frequency, Head circumference, High frequency, Hypoplasia, Interphalangeal joints, Italian families, Italian family, Italian origin, Localized areas, Mandibular, Mandibular hypoplasia, Mandibuloacral, Mandibuloacral dysplasia, Nail dystrophy, Normal parents, Orofacial structures, Partial resorption, Phalangeal dislocation, Phenotypic, Phenotypic spectrum, Physical examination, Psychomotor development, Recessive, Resorption, Right clavicle, Right humeral diaphysis, Romano tenconi, Scholastic performance, Short stature, Skin atrophy, Stiff joints, Stiffness, Syndrome, Tenconi, Ulnar deviation, Unrelated boys, Werner syndrome, Williams wilkins, Wormian, Wormian bones, Zina.
• Teeft :
  • Anomaly, Ascertainment, Autosomal, Autosomal recessive, Autosomal recessive inheritance, Birth defects, Calcification, Central italy, Chin recession, Clavicular, Clavicular hypoplasia, Cleidocranial dysostosis, Clinical delineation, Clinical findings, Cutaneous atrophy, Distal phalanx, Dysplasia, Facial bones, Founder effect, Frequent findings, Gene frequency, Head circumference, High frequency, Hypoplasia, Interphalangeal joints, Italian families, Italian family, Italian origin, Localized areas, Mandibular, Mandibular hypoplasia, Mandibuloacral, Mandibuloacral dysplasia, Nail dystrophy, Normal parents, Orofacial structures, Partial resorption, Phalangeal dislocation, Phenotypic, Phenotypic spectrum, Physical examination, Psychomotor development, Recessive, Resorption, Right clavicle, Right humeral diaphysis, Romano tenconi, Scholastic performance, Short stature, Skin atrophy, Stiff joints, Stiffness, Syndrome, Tenconi, Ulnar deviation, Unrelated boys, Werner syndrome, Williams wilkins, Wormian, Wormian bones, Zina.

Abstract

• https://api.istex.fr/document/963DBBE3E347C6798FEC71DB273B59BBE76A8B73/fulltext/pdf

Affiliations:

• Italie
• Vénétie
• Padoue
• Université de Padoue

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