Ocular characteristics in a variant microcephalic primordial dwarfism type II

by Wan-Ju Chen, Fu-Chin Huang, Min-Hsiu Shih
Published 2019-09-01

Microcephalic (Majewski) Osteodysplastic Primordial Dwarfism Type Ii With Severe Hyperandrogenism

by Zareen Kiran, MBBS, FCPS (Med), MRCP(UK), Saira Furqan, MBBS, FCPS (Med), FCPS (Endo), Saad Farooq, Owais Rashid, MBBS, FCPS (Med)
Published 2017-01-01

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

by Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Published 2021-05-01

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

by Rahim Vakili, Somayyeh Hashemian
Published 2019-04-01

MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

by Arslan Terlemez, Mustafa Altunsoy, Hakkı Çelebi
Published 2015-01-01

Primordial Dwarfism Gene Maintains Lin28 Expression to Safeguard Embryonic Stem Cells from Premature Differentiation

by Qian Dai, Guangxin Luan, Li Deng, Tingjun Lei, Han Kang, Xu Song, Yujun Zhang, Zhi-Xiong Xiao, Qintong Li
Published 2014-05-01

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

by Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad
Published 2017-10-01

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

by Haifeng Liu, Na Tao, Yan Wang, Yang Yang, Xiaoli He, Yu Zhang, Yuantao Zhou, Xiaoning Liu, Xingxing Feng, Meiyuan Sun, Fang Xu, Yanfang Su, Li Li
Published 2021-09-01

SOFT Syndrome: The First Case in Iran

by Neda Mostofizadeh, Mahshid Gheidarloo, Mahin Hashemipour, Elham Hashemi Dehkordi
Published 2018-01-01

Siblings With Familial Dwarfism Presenting With Acute Myocardial Infarction at Adolescence

by Hyun Chung, MD, Soo Yeon Kim, MD, Jeehoon Kang, MD, Ji Hoon Phi, MD, PhD, Woong-Han Kim, MD, PhD, Sei Won Yang, MD, PhD, Hye Won Kwon, MD, Sang Yoon Lee, MD, PhD, Gi Beom Kim, MD, PhD, Eun Jung Bae, MD, PhD, Mi Kyoung Song, MD, Jong-Hee Chae, MD, PhD
Published 2021-05-01

A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)

by Masoud Dehghan Tezerjani, Mohammad Yahya Vahidi Mehrjardi, Mohammad Yahya Vahidi Mehrjardi, Hossein Hozhabri, Masoud Rahmanian
Published 2020-06-01

A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

by Zhi-Jie Xia, Xin-Xin I. Zeng, Xin-Xin I. Zeng, Mitali Tambe, Mitali Tambe, Bobby G. Ng, P. Duc S. Dong, P. Duc S. Dong, Hudson H. Freeze
Published 2021-09-01

Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy...

by Meghan E. Fredette, MD, Kristin C. Lombardi, MD, Angela L. Duker, MS, LCGC, Catherine O. Buck, MD, Chanika Phornphutkul, MD, Michael B. Bober, MD, PhD, Jose Bernardo Quintos, MD
Published 2020-01-01

Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and...

by Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi, Hammad Yousaf, Zafar Ali, Ambrin Fatima, Emrah Kaygusuz, Ayaz Khan, Muhammad Jameel, Sheraz Khan, Muhammad Tariq, Iram Anjum, Janine Altmüller, Holger Thiele, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Published 2021-05-01

A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review

by Saeidi M, Shahbandari M
Published 2020-05-01

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

by Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Radwa Gamal, Shaimaa Abdelsattar Mohammad, Shaimaa Gad
Published 2014-10-01

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

by Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N. Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen
Published 2018-01-01

Viral Infection or IFN-α Alters Mitotic Spindle Orientation by Modulating Pericentrin Levels

by William M. McDougall, Jill M. Perreira, Hui-Fang Hung, Anastassiia Vertii, E. Xiaofei, Wendy Zimmerman, Timothy F. Kowalik, Stephen Doxsey, Abraham L. Brass
Published 2019-02-01

Virchow-Seckel Type Bird Headed Dwarfism (Seckel Syndrome) - A Case Report

by K N Sumanth, V C Vinod, Prerna Taneja
Published 2004-01-01

Seminoma in a Man with Russell-Silver Syndrome Presenting with Testicular Torsion

by Satoshi Funada, Ryosuke Ikeuchi, Toru Yoshida, Takehiko Segawa
Published 2016-01-01