PMID- 23922166
OWN - NLM
STAT- MEDLINE
DCOM- 20140326
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 161A
IP  - 9
DP  - 2013 Sep
TI  - Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild 
      (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
PG  - 2274-80
LID - 10.1002/ajmg.a.35437 [doi]
AB  - This paper reviews the molecular basis of the clinical features of 
      Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia-aplasia) (AARRS) syndrome 
      and Fuhrmann syndrome. Human WNT7A mutations are also reviewed. Based on this 
      review, these mutations will be classified into two main groups of phenotypes: 
      Fuhrmann and AARRS phenotypes in which there is partial and complete loss of 
      WNT7A functions, respectively.
CI  - Copyright (c) 2013 Wiley Periodicals, Inc.
FAU - Al-Qattan, M M
AU  - Al-Qattan MM
AD  - Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. 
      moqattan@hotmail.com
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20130806
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (WNT7A protein, human)
RN  - 0 (Wnt Proteins)
RN  - Al Awadi syndrome
RN  - Fuhrmann syndrome
SB  - IM
MH  - Amenorrhea/*diagnosis/*genetics
MH  - Ectromelia/*diagnosis/*genetics
MH  - Foot Deformities, Congenital/*diagnosis/*genetics
MH  - Genetic Association Studies
MH  - Hand Deformities, Congenital/*diagnosis/*genetics
MH  - Humans
MH  - Mutation
MH  - Pelvic Bones/*abnormalities
MH  - Phenotype
MH  - Uterus/*abnormalities
MH  - Wnt Proteins/genetics
OTO - NOTNLM
OT  - WNT7A
OT  - human
OT  - mutations
EDAT- 2013/08/08 06:00
MHDA- 2014/03/29 06:00
CRDT- 2013/08/08 06:00
PHST- 2011/12/09 00:00 [received]
PHST- 2012/03/24 00:00 [accepted]
PHST- 2013/08/08 06:00 [entrez]
PHST- 2013/08/08 06:00 [pubmed]
PHST- 2014/03/29 06:00 [medline]
AID - 10.1002/ajmg.a.35437 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2013 Sep;161A(9):2274-80. doi: 10.1002/ajmg.a.35437. Epub 2013 
      Aug 6.