Literature DB >> 4809786

Cutis laxa, skeletal anomalies, and ambiguous genitalia.

C I Kaye, D E Fisher, N B Esterly.   

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Year:  1974        PMID： 4809786     DOI： 10.1001/archpedi.1974.02110200117018

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  5 in total

1.  A Japanese patient with a mild Lenz-Majewski syndrome.

Authors:  Sumito Dateki; Tatsuro Kondoh; Gen Nishimura; Katsuaki Motomura; Koh-Ichiro Yoshiura; Akira Kinoshita; Hideo Kuniba; Yoshiyuki Koga; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2007-06-26       Impact factor: 3.172

2.  Congenital cutis laxa with retardation of growth and development.

Authors:  M A Patton; J Tolmie; P Ruthnum; S Bamforth; M Baraitser; M Pembrey
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

3.  Male pseudohermaphroditism: genetics and clinical delineation.

Authors:  J L Simpson
Journal:  Hum Genet       Date:  1978-10-19       Impact factor: 4.132

4.  Geroderma osteodysplastica. A report of two affected families.

Authors:  A G Hunter; J T Martsolf; C G Baker; M H Reed
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

5.  Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Authors:  Sérgio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlová; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; Gudrun E Moore
Journal:  Nat Genet       Date:  2013-11-17       Impact factor: 38.330
  5 in total

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