✦ LIBER ✦

Gonadal mosaicism in severe Pallister-Hall syndrome

✍ Scribed by Ng, David ;Johnston, Jennifer J. ;Turner, Joyce T. ;Boudreau, Eilis A. ;Wiggs, Edythe A. ;Theodore, William H. ;Biesecker, Leslie G.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 264 KB
Volume: 124A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20338

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Gonadal mosaicism in severe Pallister–Ha

Gonadal mosaicism in severe Pallister–Hall syndrome (Am J Med Genet 124A: 296–302 (2004)

✍ David Ng; Jennifer J. Johnston; Joyce T. Turner; Eilis A. Boudreau; Edythe A. Wi 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB

In the above noted manuscript, the mutation was erroneously described as c.3385\_3386delTT. It should have been described as c.3386\_3387delTT. While both designations describe the deletion of two thymidine residues within a string of three thymidines, the mutation nomenclature [den Dunnen and Anton

Mosaicism in Pallister i(12p) syndrome

✍ Wenger, Sharon L. ;Boone, Leslie Y. ;Steele, Mark W. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB 👁 1 views

Genetic counseling in Angelman syndrome:

Genetic counseling in Angelman syndrome: Gonadal mosaicism

✍ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations

Asymptomatic laryngeal malformations are

Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome

✍ Ondrey, Frank ;Griffith, Andrew ;Van Waes, Carter ;Rudy, Susan ;Peters, Kathryn 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB

Pallister-Hall syndrome (PHS) comprises hypothalamic hamartoma, polydactyly, pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies. Some patients with PHS have a bifid epiglottis, a rare malformation. Greig cephalopolysyndactyly syndrome (GCPS) comprises polydactyly wit

Pallister–Killian syndrome in a girl wit

Pallister–Killian syndrome in a girl with mild developmental delay and mosaicism for hexasomy 12p

✍ Ida Vogel; Troels Lyngbye; Alice Nielsen; Søren Pedersen; Jens Michael Hertz 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 2 views

Genital abnormalities in Pallister–Hall

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

✍ Yoko Narumi; Tomoki Kosho; Goro Tsuruta; Masaaki Shiohara; Ei Shimazaki; Tetsuo 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 127 KB 👁 2 views