✦ LIBER ✦

Genitopatellar syndrome: Expanding the phenotype

✍ Scribed by Lifchez, Caroline A. ;Rhead, William J. ;Leuthner, Steven R. ;Lubinsky, Mark S.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 150 KB
Volume: 122A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20268

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genitopatellar syndrome: Expanding the p

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4

✍ Omar A. Abdul-Rahman; Trang H. La; Andrea Kwan; Silke Schlaubitz; Greg S. Barsh; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 2 views

Genitopatellar syndrome: A recognizable

Genitopatellar syndrome: A recognizable phenotype

✍ Reardon, William 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 1 views

Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessiv

Keppen–Lubinsky syndrome: Expanding the

Keppen–Lubinsky syndrome: Expanding the phenotype

✍ Lina Basel-Vanagaite; Lisa Shaffer; David Chitayat 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 98 KB 👁 1 views

Blepharocheilodontic (BCD) syndrome: Exp

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

✍ Lopes, Vera L�cia Gil da Silva ;Guion-Almeida, Maria Leine ;Rodini, Elaine Sbrog 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 1 views

## Abstract We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observ

Expanding the skeletal phenotype of Loey

Expanding the skeletal phenotype of Loeys-Dietz syndrome

✍ Sérgio B. Sousa; Karen Lambot-Juhan; Marlène Rio; Geneviève Baujat; Vicken Topou 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 2 views

Ulnar mammary syndrome and TBX3: Expandi

Ulnar mammary syndrome and TBX3: Expanding the phenotype

✍ Helen Linden; Rosy Williams; Janet King; Edward Blair; Usha Kini 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 2 views