Literature DB >> 13748461

[A girl with Lowe's syndrome].

H G SCHOLTEN.   

Abstract

Entities:  

Keywords:  AMINO ACIDS/urine; HYDROPHTHALMOS/case reports; PHENYLPYRUVIC OLIGOPHRENIA/case reports

Mesh：

Substances：

Year:  1960        PMID： 13748461

Source DB:  PubMed          Journal:  Maandschr Kindergeneeskd        ISSN： 0024-869X


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  2 in total

1.  A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Authors:  Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; Francesco Emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis
Journal:  J Hum Genet       Date:  2006-09-06       Impact factor: 3.172

2.  Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

Authors:  O T Mueller; J K Hartsfield; L A Gallardo; Y P Essig; K L Miller; P R Papenhausen; T A Tedesco
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025
  2 in total

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