Giancarlo Gargano

CDK13 ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli et autres

In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual …

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Author response for "CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management"

Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli et autres

Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

Livia Garavelli, Giancarlo Gargano, Graziella Simonte, Simonetta Rosato et autres

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. …

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THE SYNDROME OF GHORHAM-STOUT IN THE MANDIBULAR REGION: OBSERVATION OF A MASSIVE OSTEOLYSIS

Edoardo Stellini, Sergio Mazzoleni, Giancarlo Gargano, Marino G. Di Franco et autres