Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
Acro-cardio-facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation. Five cases have been reported. We report on a...
Saved in:
Main Authors: | Tanpaiboon P., Sittiwangkul R., Dejkhamron P., Srikummool M., Sripathomsawat W., Kantaputra P. |
---|---|
Format: | Article |
Language: | English |
Published: |
2014
|
Online Access: | http://www.scopus.com/inward/record.url?eid=2-s2.0-68049113481&partnerID=40&md5=6c0088e0a7b37249f4fcbf6f878ef8e4 http://www.ncbi.nlm.nih.gov/pubmed/19606477 http://cmuir.cmu.ac.th/handle/6653943832/2821 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Chiang Mai University |
Language: | English |
Similar Items
-
Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
by: Pranoot Tanpaiboon, et al.
Published: (2018) -
Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
by: Pranoot Tanpaiboon, et al.
Published: (2018) -
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome
by: Sripathomsawat W., et al.
Published: (2014) -
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome
by: Warissara Sripathomsawat, et al.
Published: (2018) -
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: Facial palsy, cleft palate and hydrocephalus
by: Duangrurdee Wattanasirichaigoon, et al.
Published: (2018)