Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

Genes & Genomics ◽

10.1007/s13258-020-01032-5 ◽

2021 ◽

Vol 43 (2) ◽

pp. 115-121

Author(s):

Thu Hien Nguyen ◽

Ngoc-Lan Nguyen ◽

Chi Dung Vu ◽

Can Thi Bich Ngoc ◽

Ngoc Khanh Nguyen ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Primordial Dwarfism

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A new case of the osteodysplastic primordial dwarfism type II

American Journal of Medical Genetics ◽

10.1002/ajmg.1320260408 ◽

1987 ◽

Vol 26 (4) ◽

pp. 819-824 ◽

Author(s):

Patrick J. Willems ◽

Catrienus Rouwé ◽

G. Peter A. Smit ◽

John M. Opitz ◽

James F. Reynolds

Keyword(s):

Type Ii ◽

Primordial Dwarfism

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Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of Neurology ◽

10.1007/s00415-008-0714-0 ◽

2008 ◽

Vol 255 (6) ◽

pp. 831-838 ◽

Author(s):

L. Wan ◽

C.-C. Lee ◽

C.-M. Hsu ◽

W.-L. Hwu ◽

C.-C. Yang ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Novel Mutations ◽

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Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology ◽

10.1016/j.oooo.2019.08.019 ◽

2020 ◽

Vol 129 (2) ◽

pp. e204-e211 ◽

Author(s):

Sujoy Ghosh ◽

Monika Garg ◽

Sunita Gupta ◽

Meera Choudhary ◽

Mithilesh Chandra

Keyword(s):

Case Report ◽

Type Ii ◽

New Mutation ◽

Primordial Dwarfism

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Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.05.003 ◽

2016 ◽

Vol 118 (3) ◽

pp. 190-197 ◽

Author(s):

Motomichi Kosuga ◽

Ryuichi Mashima ◽

Asami Hirakiyama ◽

Naoko Fuji ◽

Tadayuki Kumagai ◽

...

Keyword(s):

Molecular Diagnosis ◽

Hunter Syndrome ◽

Mucopolysaccharidosis Type ◽

Type Ii ◽

Structural Studies ◽

Mucopolysaccharidosis Type Ii ◽

Novel Mutations

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Mucopolysaccaharidosis type II: Clinical, enzymatic, and ERT data and four novel mutations of eight cases

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2012.11.185 ◽

2013 ◽

Vol 108 (2) ◽

pp. S71

Author(s):

Halise Önenli Mungan ◽

Den Z. Kör ◽

Sevcan Erdem ◽

Sureya Soyüpak ◽

S. Bel Ba Aran

Keyword(s):

Type Ii ◽

Novel Mutations

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Partial albinism and immunodeficiency in patients with Hermansky‐Pudlak Type II: Introducing 2 novel mutations

Scandinavian Journal of Immunology ◽

10.1111/sji.12966 ◽

2020 ◽

Vol 93 (1) ◽

Author(s):

Zahra Alizadeh ◽

Susan Nabilou ◽

Marzieh Mazinani ◽

Shaghayegh Tajik ◽

Amir Ali Hamidieh ◽

...

Keyword(s):

Type Ii ◽

Novel Mutations ◽

Partial Albinism

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Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31009 ◽

2005 ◽

Vol 139A (3) ◽

pp. 212-215 ◽

Author(s):

Francesco Brancati ◽

Marco Castori ◽

Rita Mingarelli ◽

Bruno Dallapiccola

Keyword(s):

Vascular Anomalies ◽

Clinical Report ◽

Type Ii ◽

Primordial Dwarfism ◽

Cerebral Vascular

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Microcephalic osteodysplastic primordial dwarfism type ii: Report of three cases and review

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19981102)80:1<25::aid-ajmg5>3.0.co;2-0 ◽

1998 ◽

Vol 80 (1) ◽

pp. 25-31 ◽

Author(s):

Frank Majewski ◽

Timm O. Goecke

Keyword(s):

Type Ii ◽

Primordial Dwarfism

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Re: Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies [Brancati et al., 2005: Am J Med Genet 139A:212–215]

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31301 ◽

2006 ◽

Vol 140A (12) ◽

pp. 1356-1356 ◽

Author(s):

Judith G. Hall

Keyword(s):

Vascular Anomalies ◽

Clinical Report ◽

Type Ii ◽

Primordial Dwarfism ◽

Cerebral Vascular

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human Mutation ◽

10.1002/humu.10286 ◽

2003 ◽

Vol 23 (1) ◽

pp. 47-56 ◽

Author(s):

Monique M.P. Hermans ◽

Dik van Leenen ◽

Marian A. Kroos ◽

Clare E. Beesley ◽

Ans T. Van der Ploeg ◽

...

Keyword(s):

Glycogen Storage Disease ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Type Ii ◽

Phenotype Correlation ◽

Novel Mutations ◽

Genotype Phenotype Correlation

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