Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygousALX4gene mutation-Reference-Cited by-同舟云学术

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Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygousALX4gene mutation

Published:2014-03-25 Issue:5 Volume:164 Page:1322-1327
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Kariminejad Ariana¹,Bozorgmehr Bita¹,Alizadeh Houman²,Ghaderi-Sohi Siavash¹,Toksoy Güven³,Uyguner Zehra Oya³,Kayserili Hülya³

Affiliation:

1. Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran

2. Tehran University of Medical Sciences, Children's Medical Center Hospital; Tehran Iran

3. Medical Genetics Department, Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Alanay Y Uz E Eda Utine G Tuncbilek G Boduroglu K Nurten Akarsu A

2. Friedberg T Pentazi S Blaser S Murphy K Chitayat D

3. Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication;Gentile;Am J Med Genet Part A,2004

4. Skull defects, alopecia and distinctive facies: A new syndrome;Kariminejad;Clin Dysmorphol,2008

5. ALX4 dysfunction disrupts craniofacial and epidermal development;Kayserili;Hum Mol Genet,2009

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1. Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap;Journal of Clinical Medicine;2024-04-11

2. Lineage‐specific requirements of Alx4 function in craniofacial and hair development;Developmental Dynamics;2024-03-13

3. Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions;Investigative Opthalmology & Visual Science;2022-08-04

4. ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management;The Cleft Palate-Craniofacial Journal;2021-06-08

5. Comparison of inherited neural tube defects in companion animals and livestock;Birth Defects Research;2020-12-08

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