Literature DB >> 295075

[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].

J M Emberger, M Navarro, M Dejean, P Izarn.   

Abstract

Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.

Entities:  

Mesh:

Year:  1979        PMID: 295075

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  8 in total

Review 1.  Heterogeneity of GATA2-related myeloid neoplasms.

Authors:  Shinsuke Hirabayashi; Marcin W Wlodarski; Emilia Kozyra; Charlotte M Niemeyer
Journal:  Int J Hematol       Date:  2017-06-22       Impact factor: 2.490

Review 2.  Role of Transcriptional and Epigenetic Regulation in Lymphatic Endothelial Cell Development.

Authors:  Hyeonwoo La; Hyunjin Yoo; Young Bin Park; Nguyen Xuan Thang; Chanhyeok Park; Seonho Yoo; Hyeonji Lee; Youngsok Choi; Hyuk Song; Jeong Tae Do; Kwonho Hong
Journal:  Cells       Date:  2022-05-19       Impact factor: 7.666

Review 3.  Warts and all: human papillomavirus in primary immunodeficiencies.

Authors:  Jennifer W Leiding; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2012-10-01       Impact factor: 10.793

4.  High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Authors:  Marlène Pasquet; Christine Bellanné-Chantelot; Suzanne Tavitian; Naïs Prade; Blandine Beaupain; Olivier Larochelle; Arnaud Petit; Pierre Rohrlich; Christophe Ferrand; Eric Van Den Neste; Hélène A Poirel; Thierry Lamy; Marie Ouachée-Chardin; Véronique Mansat-De Mas; Jill Corre; Christian Récher; Geneviève Plat; Françoise Bachelerie; Jean Donadieu; Eric Delabesse
Journal:  Blood       Date:  2012-12-06       Impact factor: 22.113

5.  Hdac3 regulates lymphovenous and lymphatic valve formation.

Authors:  Harish P Janardhan; Zachary J Milstone; Masahiro Shin; Nathan D Lawson; John F Keaney; Chinmay M Trivedi
Journal:  J Clin Invest       Date:  2017-10-16       Impact factor: 14.808

6.  Gynecologic manifestations in Emberger syndrome.

Authors:  Hasan Yüksel; Emre Zafer
Journal:  Turk J Obstet Gynecol       Date:  2021-03-12

7.  GATA2 controls lymphatic endothelial cell junctional integrity and lymphovenous valve morphogenesis through miR-126.

Authors:  Md Riaj Mahamud; Xin Geng; Yen-Chun Ho; Boksik Cha; Yuenhee Kim; Jing Ma; Lijuan Chen; Greggory Myers; Sally Camper; Debbie Mustacich; Marlys Witte; Dongwon Choi; Young-Kwon Hong; Hong Chen; Gaurav Varshney; James Douglas Engel; Shusheng Wang; Tae-Hoon Kim; Kim-Chew Lim; R Sathish Srinivasan
Journal:  Development       Date:  2019-11-05       Impact factor: 6.868

8.  GATA2 deficiency syndrome: A decade of discovery.

Authors:  Claire C Homan; Parvathy Venugopal; Peer Arts; Nur H Shahrin; Simone Feurstein; Lesley Rawlings; David M Lawrence; James Andrews; Sarah L King-Smith; Natasha L Harvey; Anna L Brown; Hamish S Scott; Christopher N Hahn
Journal:  Hum Mutat       Date:  2021-08-31       Impact factor: 4.700

  8 in total

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