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 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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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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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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Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Current Osteoporosis Reports ◽

10.1007/s11914-017-0389-5 ◽

2017 ◽

Vol 15 (4) ◽

pp. 399-399

Author(s):

Michael B. Bober ◽

Andrew P. Jackson

Keyword(s):

Clinical Review ◽

Type Ii ◽

Primordial Dwarfism

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Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect

Science China Life Sciences ◽

10.1007/s11427-018-9329-3 ◽

2018 ◽

Vol 62 (1) ◽

pp. 144-147 ◽

Author(s):

Lanlan Meng ◽

Chaofeng Tu ◽

Guangxiu Lu ◽

Ge Lin ◽

Yueqiu Tan

Keyword(s):

Congenital Heart Defect ◽

Congenital Heart ◽

Type Ii ◽

Heart Defect ◽

Primordial Dwarfism

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Autopsy case of microcephalic osteodysplastic primordial ?dwarfism? type II

American Journal of Medical Genetics ◽

10.1002/ajmg.10716 ◽

2002 ◽

Vol 113 (1) ◽

pp. 93-96 ◽

Author(s):

Ryuji Fukuzawa ◽

Seiji Sato ◽

Michael J. Sullivan ◽

Gen Nishimura ◽

Tomonobu Hasegawa ◽

...

Keyword(s):

Type Ii ◽

Autopsy Case ◽

Primordial Dwarfism

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Nicolas Ferry (1741–1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II)

Medical Hypotheses ◽

10.1016/j.mehy.2016.04.022 ◽

2016 ◽

Vol 92 ◽

pp. 26-27

Author(s):

Frédéric Bauduer

Keyword(s):

Type Ii ◽

Primordial Dwarfism

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Osteodysplastic primordial dwarfism type ii with normal intellect but delayed central nervous system myelination

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19981102)80:1<12::aid-ajmg3>3.0.co;2-c ◽

1998 ◽

Vol 80 (1) ◽

pp. 12-15 ◽

Author(s):

Ashutosh Halder ◽

J. Pahi ◽

Anita K. Sharma ◽

V.L. Bhatia ◽

R.V. Phadke ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Type Ii ◽

Primordial Dwarfism

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