Expanding the mutation and clinical spectrum of Roberts syndrome-Reference-Cited by-同舟云学术

Expanding the mutation and clinical spectrum of Roberts syndrome

Published:2016-07 Issue:4 Volume:56 Page:154-162
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Afifi Hanan H.¹,Abdel-Salam Ghada M.H.¹,Eid Maha M.²,Tosson Angie M.S.³,Shousha Wafaa Gh.⁴,Abdel Azeem Amira A.⁵,Farag Mona K.⁶,Mehrez Mennat I.⁷,Gaber Khaled R.⁶

Affiliation:

1. Clinical Genetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Human Cytogenetics Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

3. Pediatrics Department, Faculty of Medicine; Cairo University; Cairo Egypt

4. Chemistry Department, Biochemistry Unit, Faculty of Science; Helwan University; Cairo Egypt

5. Ophthalmic Genetics Department; Research Institute of Ophthalmology; Cairo Egypt

6. Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

7. Orodental Genetics Department, Oral and Dental Research Division; National Research Centre; Cairo Egypt

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome;Bukvic;Twin Res Hum Genet,2007

2. Early intervention for young children with developmental delay: the Portage approach;Cameron;Child Care Health Dev,1997

3. The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2;Dogan;J Pak Med Assoc,2014

4. Antenatal three-dimensional sonographic features of Roberts syndrome;Dulnuan;Arch Gynecol Obstet,2011

5. The Roberts syndrome/SC phocomelia spectrum-A case report of an adult with review of the literature;Goh;Am J Med Genet,2010

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1. Unique Roberts syndrome with bilateral congenital glaucoma: A case report;World Journal of Clinical Cases;2023-07-06

2. Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations;Molecular Genetics & Genomic Medicine;2023-03-31

3. Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report;BMC Medical Genomics;2022-01-29

4. Diagnóstico prenatal de tetrafocomelia fetal;Revista Peruana de Ginecología y Obstetricia;2021-09-27

5. DNA damage induces Yap5-dependent transcription of ECO1/CTF7 in Saccharomyces cerevisiae;PLOS ONE;2020-12-29