[CITATION][C] Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction
J Foster, S Kapoor, O Diaz‐Horta, A Singh… - Clinical …, 2014 - Wiley Online Library
J Foster, S Kapoor, O Diaz‐Horta, A Singh, C Abad, A Rastogi, R Moharana, O Tekeli…
Clinical genetics, 2014•Wiley Online LibraryCongenital dacryocystocele is a subclass of nasolacrimal duct obstruction (NLDO)
characterized by focal dilation of the lacrimal sac. Typical onset initiates prenatally, resulting
in either unilateral or bilateral postnatal presentation (1). Here, we present an Indian family
with four children having isolated NLDO born to unaffected parents (Fig. 1a, b and Table 1).
This study was approved by the local Institutional Review Board (IRB). After written consent
forms were obtained from each participant, blood samples were collected. DNA was …
characterized by focal dilation of the lacrimal sac. Typical onset initiates prenatally, resulting
in either unilateral or bilateral postnatal presentation (1). Here, we present an Indian family
with four children having isolated NLDO born to unaffected parents (Fig. 1a, b and Table 1).
This study was approved by the local Institutional Review Board (IRB). After written consent
forms were obtained from each participant, blood samples were collected. DNA was …
Congenital dacryocystocele is a subclass of nasolacrimal duct obstruction (NLDO) characterized by focal dilation of the lacrimal sac. Typical onset initiates prenatally, resulting in either unilateral or bilateral postnatal presentation (1). Here, we present an Indian family with four children having isolated NLDO born to unaffected parents (Fig. 1a, b and Table 1).
This study was approved by the local Institutional Review Board (IRB). After written consent forms were obtained from each participant, blood samples were collected. DNA was extracted using standard methods. We sequenced the whole exome in affected children II: 1, II: 2, and II: 3 using the SureSelect Human All Exon 50Mb kit v4 (Agilent, Santa Clara, CA) and an Illumina, SanDiego, CA; HiSeq 2000 instrument as published previously (2). All missense,
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