Clinical Dysmorphology

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

Ahmad I. Alomari · 2008 · 196 citations

Medicine, Pathology, Pediatrics +17

Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

Jill Clayton‐Smith, Bronwyn Kerr, Hans Brünner et al. · 1997 · 128 citations

Medicine, Anatomy, Pediatrics +16

Clinical features of NSD1-positive Sotos syndrome

Katrina Tatton‐Brown, Nazneen Rahman · 2004 · 111 citations

Medicine, Neurology, Human Genetics +14

Kabuki make-up (Niikawa-Kuroki) syndrome

N. Philip, Peter Meinecke, Allou Konan David et al. · 1992 · 107 citations

Medicine, Genetics, Craniofacial Growth +7

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)

Jeanne Amiel, Peter Watkin, Mayada Tassabehji et al. · 1998 · 100 citations

Life Sciences, Genetics, Molecular Genetics +13