Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome-Reference-Cited by-同舟云学术

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

Published:2019-01-11 Issue:4 Volume:95 Page:534-536
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Midro Alina T.¹^ORCID,Tommerup Niels²,Borys Jan³,Panasiuk Barbara¹,Kosztyła-Hojna Bożena⁴,Zalewska Renata⁵,Konstantynowicz Jerzy⁶,Łebkowska Urszula⁷,Cooper Lance⁸,Scherer Steven E.⁹¹⁰,Mehrjouy Manna M.²,Liu Qian⁹,Skowroński Rafał¹¹,Stankiewicz Paweł⁸⁹

Affiliation:

1. Department of Clinical Genetics; Medical University of Białystok; Białystok Poland

2. Wilhelm Johannsen Centre for Functional Genome Research Department of Cellular and Molecular Medicine (ICMM); University of Copenhagen; Copenhagen Denmark

3. Clinic of Maxillo-Facial Surgery; Medical University; Białystok Poland

4. Department of Phonoaudiology and Logopedics; Medical University; Białystok Poland

5. Department of Ophthalmology; Medical University; Białystok Poland

6. Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases; Medical University; Białystok Poland

7. Department of Radiology; Medical University; Białystok Poland

8. Baylor Genetics; Baylor College of Medicine; Houston Texas, USA

9. Department of Molecular & Human Genetics; Baylor College of Medicine; Houston Texas, USA

10. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas, USA

11. Department of Orthopedics and Traumatology; Medical University of Białystok; Białystok Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13490/fullpdf

Reference6 articles.

1. Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25;Midro;Clin Genet,1993

2. Severe Silver-Russell syndrome and translocation (17;20)(q25;q13);Ramírez-Dueñas;Clin Genet,1992

3. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24;Dörr;Genomics,2001

4. Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome;Dörr;Hum Genet,2001

5. Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features;Stankiewicz;Am J Hum Genet,2017

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