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Truncating GLI3 mutations in Pallister-Hall Syndrome with renal malformation suggests a requirement for Hedgehog signaling during renal development.
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The clinical findings of renal cysts, dorsal pancreas agenesis and genital tract malformation suggested a hepatocyte nuclear factor-1 beta (HNF1B) transcription factor gene mutation.
Neither the type nor the incidence of these malformations suggests an adverse effect of glyphosate.
Moreover, gene dosage of Gli2 and Gli3 modulates the severity of the malformation, suggesting that a precise degree of Shh signaling is required for the normal development of rectum and anus.
CDH exacerbated by straining, coughing or sneezing suggests a hindbrain malformation, occipitocervical junction disorder or increased intracranial pressure [14].
In contrast, the high content of APP within the dystrophic neurites suggests a possible direct role of such malformations in plaque formation.
This report adds to other descriptions of familial clustering of CMI malformations, which suggest an underlying genetic basis.
In the remainder of this article, we discuss experimental evidence that provides insight into the still-uncertain causes and mechanisms of this malformation, which collectively suggest a global defect in the development of the caudal end of the embryo.
Indeed, we found that FGCB was present in 7.7%% (3/39) of infants dying of explained causes but without a history of seizures and/or somatic/brain malformations, suggesting that FGCB is not specific to unexplained death, but rather occurs in the unexplained category with significantly increased frequency.
Familial forms of PSIS and associated malformations suggest that its origin is antenatal [8].
As already mentioned, results from studies on congenital malformations suggest that the sensitivity of antenatal diagnosis is highly correlated with the type of medical institution, quality of the ultrasonography equipment and examiner's experience and qualification level [ 22- 28].
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