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Publications by R Di Girlamo
Family Study of Inherited Syndrome With Multiple Congenital Deformities: Symphalangism, Carpal and Tarsal Fusion, Brachydactyly, Craniosynostosis, Strabismus, Hip Osteochondritis.
Journal of Medical Genetics
Genetics
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A Family Study of Craniosynostosis, With Probable Recognition of a Distinct Syndrome.
Journal of Medical Genetics
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Liebenberg Syndrome: Brachydactyly With Joint Dysplasia (MIM 186550): A Second Family
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Another “Multiple Congenital Anomalies” Syndrome - The W. Family
Pediatric Research
Child Health
Pediatrics
Perinatology
Unknown Syndrome: Congenital Heart Disease, Ptosis, Hypodontia, and Craniosynostosis.
Journal of Medical Genetics
Genetics
Congenital Deformities
Postgraduate Medical Journal
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A Novel R486Q Mutation in BMPR1B Resulting in Either a Brachydactyly Type C/Symphalangism-Like Phenotype or Brachydactyly Type A2
European Journal of Human Genetics
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Registration of Congenital Deformities
BMJ
Temtamy Preaxial Brachydactyly Syndrome
Congenital Deformities of Hands and Feet
BMJ
