Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl-Reference-Cited by-同舟云学术

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Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2‐year‐old girl

Published:2020-08-03 Issue:10 Volume:182 Page:2372-2376
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rossi‐Espagnet Maria C.¹²^ORCID,Dentici Maria L.³^ORCID,Pasquini Luca¹²,Carducci Chiara¹,Lucignani Martina⁴,Longo Daniela¹,Agolini Emanuele⁵^ORCID,Novelli Antonio⁵,Gonfiantini Michaela V.⁴,Digilio Maria C.⁴,Napolitano Antonio⁴,Bartuli Andrea⁴

Affiliation:

1. Neuroradiology Unit, Bambino Gesù Children's Hospital IRCCS Rome Italy

2. Nesmos Department Sapienza University Rome Italy

3. Rare Diseases and Medical Genetics Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

4. Medical Physics Department Bambino Gesù Children's Hospital, IRCCS Rome Italy

5. Laboratory of Medical Genetics Bambino Gesù Children's Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61771

Reference20 articles.

1. Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

2. A developmental and genetic classification for malformations of cortical development: update 2012

3. Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype

4. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

5. Pericentrin in cellular function and disease

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07

2. Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature;Orphanet Journal of Rare Diseases;2021-07-03

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