Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome-Reference-Cited by-同舟云学术

Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome

Published:2017-12-19 Issue:2 Volume:176 Page:351-358
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Eguchi Mariko¹²^ORCID,Ozaki Erina²³,Yamauchi Toshifumi⁴,Ohta Masaaki⁴,Higaki Takashi⁵,Masuda Kiyoshi⁶,Imoto Issei⁶^ORCID,Ishii Eiichi¹²,Eguchi‐Ishimae Minenori¹

Affiliation:

1. Department of PediatricsEhime University Graduate School of MedicineToonEhimeJapan

2. Division of Medical GeneticsEhime University HospitalToonEhimeJapan

3. Department of Total Medical Support CenterEhime University HospitalToonEhimeJapan

4. Department of NeonatologyMaternity & Perinatal Care UnitEhime University HospitalToonEhimeJapan

5. Department of Regional Pediatrics and PerinatologyEhime University Graduate School of MedicineToonEhimeJapan

6. Department of Human GeneticsGraduate School of Biomedical Sciences, Tokushima UniversityTokushimaJapan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38578

Reference32 articles.

1. Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

2. Facial anomalies inD-2-hydroxyglutaric aciduria

3. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

4. Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

5. Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

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