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Gianni Camera

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A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis

2008 Clinical Genetics
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"Angel-shaped phalanx" in a boy with oromandibular-limb hypogenesis.

2003 American Journal of Medical Genetics Part A
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Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height

2003 American Journal of Medical Genetics Part A
- Andrea Camera
- Gianni Camera
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Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

2003 American Journal of Medical Genetics Part A
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Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

2001 American Journal of Medical Genetics
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An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)

1997 American Journal of Medical Genetics
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Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

1997 Biochemical and Molecular Medicine
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Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations

1995 American Journal of Medical Genetics
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F-syndrome (F-form of acro-pectoro-vertebral dysplasia): Report on a second family

1995 American Journal of Medical Genetics
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Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome

1995 American Journal of Medical Genetics
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Citations (5)