Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion ; volume:24 ; number:1 ; day:13 ; month:12 ; year:2023 ; pages:1-6 ; date:12.2023
The Egyptian journal of medical human genetics ; 24, Heft 1 (13.12.2023), 1-6, 12.2023

Creator: Molina Herranz, David
Moreno Sánchez, Amelia
Carmen Marcén, Gema
Salinas Salvador, Belén
Pérez Delgado, Raquel
Izquierdo Álvarez, Silvia

Contributor: SpringerLink (Online service)

DOI: 10.1186/s43042-023-00462-6

URN: urn:nbn:de:101:1-2024022810461296255472

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:57 AM CEST

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Molina Herranz, David
Moreno Sánchez, Amelia
Carmen Marcén, Gema
Salinas Salvador, Belén
Pérez Delgado, Raquel
Izquierdo Álvarez, Silvia
SpringerLink (Online service)

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Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion

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Other Objects (12)

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Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

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