A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of <i>MARCH1</i>.

Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Savasta, Salvatore; Raucci, Umberto; Pavone, Piero

A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1.

Pappalardo, Xena Giada; Ruggieri, Martino; Falsaperla, Raffaele; Savasta, Salvatore; Raucci, Umberto; Pavone, Piero.

Afiliação

Pappalardo XG; Unit of Catania, Institute for Biomedical Research and Innovation, National Council of Research, Catania, Italy.
Ruggieri M; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
Falsaperla R; Section of Pediatrics and Child Neuropsychiatry, Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, AOU "Policlinico," PO "G. Rodolico," University of Catania, Catania, Italy.
Savasta S; Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico," PO "San Marco," University of Catania, Catania, Italy.
Raucci U; Pediatric Clinic, IRCCS Policlinico S. Matteo Foundation, Pavia, Italy.
Pavone P; Pediatric Intensive Care Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.

J Pediatr Genet ; 10(4): 259-265, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34853711

Palavras-chave

4q deletion syndrome; MARCH1 gene; adducted thumbs; aggressive behavior; craniofacial features; marked speech delay; precocious dentition

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: J Pediatr Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália

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