Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

[10] reported a patient with c.1771-6C[greater than]G, who showed mild developmental delay (walk independently at 1.5 years old) and striatal involvement. [...]clinical observations and functional research are required to demonstrate detailed genotype-phenotype correlation. [...]we report an atypica...

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Veröffentlicht in:Clinical and experimental pediatrics 2023-03, Vol.66 (3), p.142-144
Hauptverfasser: Moon, Byungseung, Kim, Minhye, Kim, Hye Jin, Cho, Jae So, Son, Hey Joon, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong Hee, Kim, Soo Yeon
Format: Artikel
Sprache:eng
Schlagworte:
Atrophy
Brain research
Clinical Note
Conflicts of interest
Congenital diseases
Disease
Failure to thrive
Genotype & phenotype
Hospitals
Magnetic resonance imaging
Patients
Polymerase chain reaction
RNA polymerase
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Zusammenfassung:[10] reported a patient with c.1771-6C[greater than]G, who showed mild developmental delay (walk independently at 1.5 years old) and striatal involvement. [...]clinical observations and functional research are required to demonstrate detailed genotype-phenotype correlation. [...]we report an atypical case of POLR3A-related diseases. Funding This study was supported by the Research Program funded by the Korea Centers for Disease Control and Prevention (Grant No. 2021-ER0701-00).
ISSN:2713-4148
2713-4148
DOI:10.3345/cep.2022.01144