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A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome

✍ Scribed by Sibylle Strenge; Annegret Kujat; Leopoldo Zelante; Ursula G. Froster


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
77 KB
Volume
140A
Category
Article
ISSN
1552-4825

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✍ Li, Mengrong; Zackai, Elaine H.; Niikawa, Norio; Kaplan, Paige; Driscoll, Debora 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB 👁 1 views

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormaliti