A case of systemic aplasia cutis congenita: a newly recognized syndrome?

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

Seongman Kang, John M. Graham, Ann Haskins Olney et al. · Nature Genetics · 1997 · 510 citations

Life Sciences, Genetics, Molecular Genetics +8

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 272 citations

Life Sciences, Genetics, Molecular Biology +14

Aplasia cutis congenita and associated disorders: an update

Mirjam E. J. W. Evers, Peter M. Steijlen, Ben C.J. Hamel · Clinical Genetics · 1995 · 116 citations

Life Sciences, Genetics, Pediatrics +5

Analysis of the <i>p63</i> gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

Lon L. Barrow · Journal of Medical Genetics · 2002 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17