PMID: 22495616

Dreux S, Boughanim M, Lepinard C, Guichet A, Rival JM, de Becdelievre A, Dugueperoux I, Muller F
Relationship of non-visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome.
Prenat Diagn. 2012 May;32(5):423-6. doi: 10.1002/pd.3830. Epub 2012 Apr 11., [PubMed]
Sentences
No. Mutations Sentence Comment
32 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 22495616:32:95
status: NEW
view ABCC7 p.Gly551Asp details
 Eight infants were affected by severe disease: CF in three (F508del homozygous in two; F508del/G551D in one) and BA in five. Login to comment 35 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 22495616:35:254
status: NEW
view ABCC7 p.Trp1282* details
 Non-visualization of the gallbladder was associated with hyperechogenic bowels in four cases (F508del homozygous in three; del508F/405+1G->A), with dilated bowel in one case (F508del homozygous) and with both signs in two cases (2347delG/CFTRdele14b-15; W1282X/del2->6b). Login to comment