Literature DB >> 10413338

RAPADILINO syndrome: a multiple malformation syndrome with radial and patellar aplasia.

K Jam1, M Fox, B F Crandall.   

Abstract

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Year:  1999        PMID： 10413338     DOI： 10.1002/(SICI)1096-9926(199907)60:1<37::AID-TERA10>3.0.CO;2-R

Source DB:  PubMed          Journal:  Teratology        ISSN： 0040-3709


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Review 3.  Replication proteins and human disease.

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4.  Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

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5.  The mutation spectrum in RECQL4 diseases.

Authors:  H Annika Siitonen; Jenni Sotkasiira; Martine Biervliet; Abdelmadjid Benmansour; Yline Capri; Valerie Cormier-Daire; Barbara Crandall; Katariina Hannula-Jouppi; Raoul Hennekam; Denise Herzog; Kathelijn Keymolen; Marita Lipsanen-Nyman; Peter Miny; Sharon E Plon; Stefan Riedl; Ajoy Sarkar; Fernando R Vargas; Alain Verloes; Lisa L Wang; Helena Kääriäinen; Marjo Kestilä
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  5 in total

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