Literature DB >> 5173234

New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.

L W Young, J F Radebaugh, P Rubin, J A Sensenbrenner, G Fiorelli, V A McKusick.   

Abstract

Entities:  

Mesh：

Year:  1971        PMID： 5173234

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  12 in total

1.  Hereditary sclerosing poikiloderma.

Authors:  Hyo Jin Lee; Dong Hoon Shin; Jong Soo Choi; Ki Hong Kim
Journal:  J Korean Med Sci       Date:  2012-01-27       Impact factor: 2.153

2.  A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism.

Authors:  Savitha Shastry; Vinaya Simha; Koumudi Godbole; Paolo Sbraccia; Serge Melancon; Chittaranjan S Yajnik; Giuseppe Novelli; Matthias Kroiss; Abhimanyu Garg
Journal:  J Clin Endocrinol Metab       Date:  2010-07-14       Impact factor: 5.958

3.  Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies.

Authors:  Paul R Odgren; Craig H Pratt; Carole A Mackay; April Mason-Savas; Michelle Curtain; Lindsay Shopland; Tsutomu Ichicki; John P Sundberg; Leah Rae Donahue
Journal:  PLoS One       Date:  2010-04-01       Impact factor: 3.240

4.  Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Authors:  Giuseppe Novelli; Antoine Muchir; Federica Sangiuolo; Anne Helbling-Leclerc; Maria Rosaria D'Apice; Catherine Massart; Francesca Capon; Paolo Sbraccia; Massimo Federici; Renato Lauro; Cosimo Tudisco; Rosanna Pallotta; Gioacchino Scarano; Bruno Dallapiccola; Luciano Merlini; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2002-06-19       Impact factor: 11.025

5.  Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.

Authors:  Y Miyoshi; M Akagi; A K Agarwal; N Namba; K Kato-Nishimura; I Mohri; M Yamagata; S Nakajima; S Mushiake; M Shima; R J Auchus; M Taniike; A Garg; K Ozono
Journal:  Clin Genet       Date:  2008-04-22       Impact factor: 4.438

Review 6.  Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Authors:  Nivedita Patni; Abhimanyu Garg
Journal:  Nat Rev Endocrinol       Date:  2015-08-04       Impact factor: 43.330

7.  A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis.

Authors:  E Pedagogos; G Flanagan; D M Francis; G J Becker; D M Danks; R G Walker
Journal:  Pediatr Nephrol       Date:  1995-06       Impact factor: 3.714

8.  Stiff skin syndrome versus scleroderma: a report of two cases.

Authors:  V F Azevedo; S Z Serafini; B Werner; C S Müller; C F M Franchini; R L S L Morais
Journal:  Clin Rheumatol       Date:  2009-05-05       Impact factor: 2.980

9.  Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.

Authors:  Baris Akinci; Shireesha Sankella; Christopher Gilpin; Keiichi Ozono; Abhimanyu Garg; Anil K Agarwal
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-01

10.  Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

Authors:  Di-Qing Luo; Xiao-Zhu Wang; Yan Meng; Ding-Yang He; Ying-Ming Chen; Zhi-Yong Ke; Ming Yan; Yu Huang; Da-Fang Chen
Journal:  BMC Pediatr       Date:  2014-10-07       Impact factor: 2.125
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