The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

Federica Francesca L'Erario; Giuseppe Marangi; Anna Gloria Renzi; Marina Carapelle; Paolo Niccolo' Doronzio; D. Pasquetti; Sabrina Maietta; Elena Sonnini; A. Gazzellone; Marcella Zollino

doi:10.1016/j.gendis.2025.101546

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

Federica Francesca L'Erario
, Giuseppe Marangi
, Anna Gloria Renzi
, Marina Carapelle
, Paolo Niccolo' Doronzio
, D. Pasquetti
, Sabrina Maietta
, Elena Sonnini
, A. Gazzellone
, Marcella Zollino^*

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

No abstract available

Lingua originale	Inglese
pagine (da-a)	N/A-N/A
Rivista	GENES & DISEASES
Volume	12
Numero di pubblicazione	6
DOI	https://doi.org/10.1016/j.gendis.2025.101546
Stato di pubblicazione	Pubblicato - 2025

OSS delle Nazioni Unite

Questo processo contribuisce al raggiungimento dei seguenti obiettivi di sviluppo sostenibile

SDG 3 Salute e benessere

All Science Journal Classification (ASJC) codes

Biochimica
Biologia Molecolare
Genetica (clinica)
Biologia Cellulare

Keywords

KANSL1
Koolen-de Vries syndrome

Accesso al documento

10.1016/j.gendis.2025.101546

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L'Erario, F. F., Marangi, G., Renzi, A. G., Carapelle, M., Doronzio, P. N., Pasquetti, D., Maietta, S., Sonnini, E., Gazzellone, A., & Zollino, M. (2025). The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure. GENES & DISEASES, 12(6), N/A-N/A. https://doi.org/10.1016/j.gendis.2025.101546

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title = "The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure",

abstract = "No abstract available",

keywords = "KANSL1, Koolen-de Vries syndrome, KANSL1, Koolen-de Vries syndrome",

author = "L'Erario, \{Federica Francesca\} and Giuseppe Marangi and Renzi, \{Anna Gloria\} and Marina Carapelle and Doronzio, \{Paolo Niccolo'\} and D. Pasquetti and Sabrina Maietta and Elena Sonnini and A. Gazzellone and Marcella Zollino",

year = "2025",

doi = "10.1016/j.gendis.2025.101546",

language = "English",

volume = "12",

pages = "N/A--N/A",

journal = "GENES \& DISEASES",

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L'Erario, FF , Marangi, G, Renzi, AG, Carapelle, M, Doronzio, PN, Pasquetti, D, Maietta, S, Sonnini, E, Gazzellone, A & Zollino, M 2025, 'The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure', GENES & DISEASES, vol. 12, n. 6, pagg. N/A-N/A. https://doi.org/10.1016/j.gendis.2025.101546

TY - JOUR

T1 - The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

AU - L'Erario, Federica Francesca

AU - Marangi, Giuseppe

AU - Renzi, Anna Gloria

AU - Carapelle, Marina

AU - Doronzio, Paolo Niccolo'

AU - Pasquetti, D.

AU - Maietta, Sabrina

AU - Sonnini, Elena

AU - Gazzellone, A.

AU - Zollino, Marcella

PY - 2025

Y1 - 2025

N2 - No abstract available

AB - No abstract available

KW - KANSL1

KW - Koolen-de Vries syndrome

KW - KANSL1

KW - Koolen-de Vries syndrome

UR - https://publicatt.unicatt.it/handle/10807/326056

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U2 - 10.1016/j.gendis.2025.101546

DO - 10.1016/j.gendis.2025.101546

M3 - Article

SN - 2352-3042

VL - 12

SP - N/A-N/A

JO - GENES & DISEASES

JF - GENES & DISEASES

IS - 6

ER -

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure

Abstract

OSS delle Nazioni Unite

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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