Delineation of the clinical profile of CNOT2-related disorder and review of the phenotype of 12q15 microdeletion syndrome

被引：0

作者：

Niceta, Marcello ^{[1
,2
]}

Inzana, Francesca ^{[3
]}

Peron, Angela ^{[4
,5
]}

Bakhtiari, Somayeh ^{[6
,7
,8
,9
,10
]}

Nizon, Mathilde ^{[11
]}

Levy, Jonathan ^{[12
]}

Ferrer, Alejandro ^{[13
]}

Pizzi, Simone

Mancini, Cecilia

Radio, Francesca Clementina ^{[1
]}

Agolini, Emanuele ^{[14
]}

Cocciadiferro, Dario ^{[14
]}

Salih, Mustafa A. ^{[15
]}

Recalcati, Maria Paola ^{[16
]}

Arancio, Rosangela ^{[17
]}

Besnard, Marianne ^{[18
]}

Tabet, Anne-Claude ^{[19
,20
]}

Kruer, Michael C. ^{[6
]}

Novelli, Antonio ^{[14
]}

Dallapiccola, Bruno ^{[1
]}

Tartaglia, Marco ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Genet & Rare Dis, Rome, Italy

[2] Sapienza Univ, Dept Pediat, Rome, Italy

[3] Reg Hosp Bolzano, Genet Counseling Serv, Bolzano, Italy

[4] ASST Santi Paolo & Carlo, Osped San Paolo, Med Genet, Milan, Italy

[5] Univ Utah, Div Med Genet, Dept Pediat, Salt Lake City, UT USA

[6] Phoenix Childrens Hosp, Barrow Neurol Inst, Div Pediat Neurol, Pediat Movement Disorders Program, Phoenix, AZ USA

[7] Univ Arizona, Coll Med Phoenix, Dept Child Hlth, Phoenix, AZ USA

[8] Univ Arizona, Coll Med Phoenix, Dept Neurol & Cellular, Phoenix, AZ USA

[9] Univ Arizona, Coll Med Phoenix, Dept Mol Med, Phoenix, AZ USA

[10] Univ Arizona, Coll Med Phoenix, Genet Program, Phoenix, AZ USA

[11] Univ Nantes, CNRS, CHU Nantes, Linst thorax,Serv Genet Med,INSERM, Nantes, France

[12] Robert Debre Univ Hosp, AP HP, Dept Genet, Paris, France

[13] Mayo Clin, Div Hematol, Rochester, MN USA

[14] Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, IRCCS, Rome, Italy

[15] King Saud Univ KFSHRC, Neurol Div, Dept Pediat, Coll Med, Riyadh, Saudi Arabia

[16] Ist Auxol Italiano IRCCS, Med Cytogenet Lab, Cusano Milanino, Italy

[17] Osped San Paolo, Clin Pediat, ASST Santi Paolo Carlo, Milan, Italy

[18] Ctr Hosp Polynesie Francaise, Dept Neonatol, Papeete, French Polynesi, France

[19] Inst Pasteur, Human Genet & Cognit Funct, Paris, France

[20] Robert Debre Hosp, Genet Dept, Cytogenet Unit, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

EP12.065

引用

页码：237 / 238

页数：2

共 48 条

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[22] Characterization of the 12q15 MDM2 and 12q13-14 CDK4 Amplicons and Clinical Correlations in Osteosarcoma
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[23] Molecular and clinical delineation of the 2p15-16.1 microdeletion syndrome and proposal of a new candidate gene for microcephaly
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[24] Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder
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[25] The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype (vol 18, pg 163, 2010)
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[26] 12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature
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[27] Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases
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[28] The Proximal Chromosome 14q Microdeletion Syndrome: Delineation of the Phenotype Using High Resolution SNP Oligonucleotide Microarray Analysis (SOMA) and Review of the Literature
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[29] Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
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[30] Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
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