Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.

Szczawinska-Poplonyk, Aleksandra; Schwartzmann, Eyal; Chmara, Zuzanna; Glukowska, Antonina; Krysa, Tomasz; Majchrzycki, Maksymilian; Olejnicki, Maurycy; Ostrowska, Paulina; Babik, Joanna

Szczawinska-Poplonyk, Aleksandra; Schwartzmann, Eyal; Chmara, Zuzanna; Glukowska, Antonina; Krysa, Tomasz; Majchrzycki, Maksymilian; Olejnicki, Maurycy; Ostrowska, Paulina; Babik, Joanna.

Afiliação

Szczawinska-Poplonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Schwartzmann E; Medical Student Scientific Society, English Division, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Chmara Z; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Glukowska A; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Krysa T; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Majchrzycki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Olejnicki M; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Ostrowska P; Medical Student Scientific Society, Karol Marcinkowski University of Medical Sciences, 60-572 Poznan, Poland.
Babik J; Gynecology and Obstetrics with Pregnancy Pathology Unit, Franciszek Raszeja Municipal Hospital, 60-834 Poznan, Poland.

Int J Mol Sci ; 24(9)2023 May 05.

Article em En | MEDLINE | ID: mdl-37176024

Assuntos

Síndrome de DiGeorge; Cardiopatias Congênitas; Humanos; Síndrome de DiGeorge/genética; Deleção Cromossômica; Cardiopatias Congênitas/genética; Biologia Molecular; Cromossomos

Palavras-chave

22q11.2 deletion; DiGeorge syndrome; congenital heart defect; dysmorphism; hypocalcemia; inborn errors of immunity; microdeletion; thymus; velocardiofacial syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de DiGeorge / Cardiopatias Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de DiGeorge / Cardiopatias Congênitas Idioma: En Ano de publicação: 2023 Tipo de documento: Article