SRD5A3-CDG: Twins with an intragenic tandem duplication-Reference-Cited by-同舟云学术

SRD5A3-CDG: Twins with an intragenic tandem duplication

Published:2022-05 Issue:5 Volume:65 Page:104492
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Rieger Melissa,Türk Matthias,Kraus Cornelia,Uebe Steffen,Ekici Arif B.,Krumbiegel Mandy,Huchzermeyer Cord,Reis André,Thiel Christian

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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3. A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations;Assmann;Neuropediatrics,2001

4. Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases in Arabs;Bastaki;Ann. Hum. Genet.,2018

5. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition;Ben Ayed;Am. J. Med. Genet.,2021

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2. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG;Journal of Pediatric Endocrinology and Metabolism;2023-04-13

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