Literature DB >> 28636259

Variants in KAT6A and pituitary anomalies.

Nitash Zwaveling-Soonawala1, Saskia M Maas2, Marielle Alders2, Charles B Majoie3, Eric Fliers4, A S Paul van Trotsenburg1, Raoul C M Hennekam5.   

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Year:  2017        PMID： 28636259     DOI： 10.1002/ajmg.a.38330

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  7 in total

1.  A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.

Authors:  Asem Alkhateeb; Wafa Alazaizeh
Journal:  J Pediatr Genet       Date:  2018-12-26

2.  A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

Authors:  Joanne Trinh; Irina Hüning; Zafer Yüksel; Nadja Baalmann; Sophie Imhoff; Christine Klein; Arndt Rolfs; Gabriele Gillessen-Kaesbach; Katja Lohmann
Journal:  J Hum Genet       Date:  2018-06-13       Impact factor: 3.172

3.  A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.

Authors:  Fady P Marji; Jennifer A Hall; Erin Anstadt; Suneeta Madan-Khetarpal; Jesse A Goldstein; Joseph E Losee
Journal:  J Pediatr Genet       Date:  2020-04-25

Review 4.  Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Authors:  Soyoung Bae; Aram Yang; Jinsup Kim; Hyun Ju Lee; Hyun Kyung Park
Journal:  BMC Med Genomics       Date:  2021-12-20       Impact factor: 3.063

5.  KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Authors:  Joanna Kennedy; David Goudie; Edward Blair; Kate Chandler; Shelagh Joss; Victoria McKay; Andrew Green; Ruth Armstrong; Melissa Lees; Benjamin Kamien; Bruce Hopper; Tiong Yang Tan; Patrick Yap; Zornitza Stark; Nobuhiko Okamoto; Noriko Miyake; Naomichi Matsumoto; Ellen Macnamara; Jennifer L Murphy; Elizabeth McCormick; Hakon Hakonarson; Marni J Falk; Dong Li; Patrick Blackburn; Eric Klee; Dusica Babovic-Vuksanovic; Susan Schelley; Louanne Hudgins; Sarina Kant; Bertrand Isidor; Benjamin Cogne; Kimberley Bradbury; Mark Williams; Chirag Patel; Helen Heussler; Celia Duff-Farrier; Phillis Lakeman; Ingrid Scurr; Usha Kini; Mariet Elting; Margot Reijnders; Janneke Schuurs-Hoeijmakers; Mohamed Wafik; Anne Blomhoff; Claudia A L Ruivenkamp; Esther Nibbeling; Alexander J M Dingemans; Emilie D Douine; Stanley F Nelson; Maja Hempel; Tatjana Bierhals; Davor Lessel; Jessika Johannsen; Valerie A Arboleda; Ruth Newbury-Ecob
Journal:  Genet Med       Date:  2018-09-24       Impact factor: 8.822

6.  A de novo heterozygous variant in KAT6A is associated with a newly named neurodevelopmental disorder Arboleda-Tham syndrome-a case report.

Authors:  Mingyan Jiang; Lianlian Yang; Jinhui Wu; Fei Xiong; Jinrong Li
Journal:  Transl Pediatr       Date:  2021-06

7.  Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Authors:  Roser Urreizti; Estrella Lopez-Martin; Antonio Martinez-Monseny; Montse Pujadas; Laura Castilla-Vallmanya; Luis Alberto Pérez-Jurado; Mercedes Serrano; Daniel Natera-de Benito; Beatriz Martínez-Delgado; Manuel Posada-de-la-Paz; Javier Alonso; Purificación Marin-Reina; Mar O'Callaghan; Daniel Grinberg; Eva Bermejo-Sánchez; Susanna Balcells
Journal:  Orphanet J Rare Dis       Date:  2020-02-10       Impact factor: 4.123
  7 in total

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