A Superti‐Furga

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

A Superti‐Furga, Luitgard M. Neumann, T Riebel et al. · PubMed · 1999 · 140 citations

Medicine, Genetics, Molecular Genetics +17

<i>RMRP</i> gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms

Luisa Bonafé, Katharina Schmitt, Georg Eich et al. · Clinical Genetics · 2002 · 87 citations

Medicine, Genetics, Molecular Genetics +17

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2

Andreas Zankl, Luisa Bonafé, Valeria Calcaterra et al. · Clinical Genetics · 2005 · 76 citations

Medicine, Genetics, Molecular Genetics +17

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified <i>DLL3</i> mutations segregating in a small village

Luisa Bonafé, Cecilia Giunta, Markus Gassner et al. · Clinical Genetics · 2003 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing <i>LAF4</i>

Elisabeth Steichen‐Gersdorf, Ingmar Gaßner, A Superti‐Furga et al. · Clinical Genetics · 2008 · 35 citations

Medicine, Genetics, Human Genetics +14