✦ LIBER ✦

Velocardiofacial syndrome: Is there a neuropsychiatric phenotype?

✍ Scribed by Edith M. Jolin; Elizabeth B. Weller; Ronald A. Weller

Book ID: 107551797
Publisher: Springer
Year: 2006
Tongue: English
Weight: 101 KB
Volume: 8
Category: Article
ISSN: 1523-3812
DOI: 10.1007/s11920-006-0005-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Child with velocardiofacial syndrome and

Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype

✍ Tsai, Chun-Hui; Van Dyke, Daniel L.; Feldman, Gerald L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 3 views

We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytoge

A novel hypomorphicMECP2point mutation i

A novel hypomorphicMECP2point mutation is associated with a neuropsychiatric phenotype

✍ Abidemi A. Adegbola; Michael L. Gonzales; Andrew Chess; Janine M. LaSalle; Geral 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 366 KB

Is there a Baller-Gerold syndrome?

✍ Cohen, M. Michael ;Toriello, Helga V. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB

Is there a post-PPH syndrome?

✍ I. Khubchandani; M. H. Fealk; J. F. Reed 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 109 KB

6q27 subtelomeric deletions: Is there a

6q27 subtelomeric deletions: Is there a specific phenotype?

✍ Chiara Rigon; Leonardo Salviati; Romina Mandarano; Marta Donà; Maurizio Clementi 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB

EEC syndrome, Arg227Gln TP63 mutation an

EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

✍ Kenneth Maclean; Stephen A. Holme; Elizabeth Gilmour; Mark Taylor; Heide Scheffe 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB 👁 2 views

## Abstract We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln __TP63__ gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb‐mammary syndrome (LMS). Features common to both familie