MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy

Author:

Mattos Adriana Marques de1,Marques Aluisio Dias1,Parrela Carla Patrícia Oliveira1,Fish Josephine Marie da Cunha1,Artigalas Osvaldo Alfonso Pinto1,Ranzan Josiane1,Winkcler Maria Isabel Bragatti1,Ohlweiler Lygia1,Riesgo Rudimar dos Santos1

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Clinical Neurology

Reference15 articles.

1. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited;Neuhauser G;Z Kinderheilkd,1975

2. Megalocornea and mental retardation syndrome: two new cases;Del Giudice E;Am J Med Genet,1987

3. Megalocornea and mental retardation syndrome;Raas-Rothschild A;Am J Med Genet,1988

4. Megalocornea and mental retardation syndrome: a new case;Gronbech-Jensen M;Am J Med Genet,1989

5. Diagnosis of cytomegalovirus infection of the lung in the acquired immune deficiency syndrome (AIDS): by in situ DNA hybridization;Frydman CP;Prog AIDS Pathol,1989

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Primary megalocornea: case report;Archivos de la Sociedad Española de Oftalmología (English Edition);2020-04

2. Megalocórnea esencial: relato de caso;Archivos de la Sociedad Española de Oftalmología;2020-04

3. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model;Human Molecular Genetics;2015-02-23

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