Mutation spectrum of <it>MLL2 </it>in a cohort of kabuki syndrome patients
<p>Abstract</p> <p>Background</p> <p>Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, a...
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Bibliographic Details
| Main Authors: |
Renieri Alessandra,
Prontera Paolo,
Priolo Manuela,
Patricelli Maria G,
Melis Daniela,
Mattina Teresa,
Lapi Elisabetta,
Garavelli Livia,
Fischetto Rita,
Ferrari Paola,
Daolio Cecilia,
Douzgou Sofia,
Clementi Maurizio,
Bonfante Aldo,
Accadia Maria,
Forzano Francesca,
Faravelli Francesca,
Dallapiccola Bruno,
Digilio Maria C,
Calcagnì Alessia,
Belligni Elga,
D'Addetta Ester V,
Zucchetti Federica,
Gumiero Barbara,
Reymond Alexandre,
Silengo Margherita,
Loviglio Maria N,
Selicorni Angelo,
Fusco Carmela,
Augello Bartolomeo,
Micale Lucia,
Mencarelli Maria A,
Scarano Gioacchino,
Monica Matteo,
Toschi Benedetta,
Turolla Licia,
Vancini Alessandra,
Zatterale Adriana,
Gabrielli Orazio,
Zelante Leopoldo,
Merla Giuseppe |
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| Format: | Article
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| Language: | English |
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| Published: |
BMC
2011-06-01
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| Series: | Orphanet Journal of Rare Diseases
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| Online Access: | http://www.ojrd.com/content/6/1/38
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