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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. / Salem, Nabeel J M; Hempel, Maja; Heiliger, Katrin-Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad.

In: AM J MED GENET A, Vol. 161A, No. 6, 06.2013, p. 1421-4.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Salem, NJM, Hempel, M, Heiliger, K-J, Hosie, S, Meitinger, T & Oexle, K 2013, 'Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2', AM J MED GENET A, vol. 161A, no. 6, pp. 1421-4. https://doi.org/10.1002/ajmg.a.35883

APA

Salem, N. J. M., Hempel, M., Heiliger, K-J., Hosie, S., Meitinger, T., & Oexle, K. (2013). Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. AM J MED GENET A, 161A(6), 1421-4. https://doi.org/10.1002/ajmg.a.35883

Vancouver

Salem NJM, Hempel M, Heiliger K-J, Hosie S, Meitinger T, Oexle K. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. AM J MED GENET A. 2013 Jun;161A(6):1421-4. https://doi.org/10.1002/ajmg.a.35883

Bibtex

@article{0462e3459f84408ea4372f26c8e3e226,
title = "Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2",
abstract = "A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.",
author = "Salem, {Nabeel J M} and Maja Hempel and Katrin-Janine Heiliger and Stuart Hosie and Thomas Meitinger and Konrad Oexle",
note = "Copyright {\textcopyright} 2013 Wiley Periodicals, Inc.",
year = "2013",
month = jun,
doi = "10.1002/ajmg.a.35883",
language = "English",
volume = "161A",
pages = "1421--4",
journal = "AM J MED GENET A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "6",

}

RIS

TY - JOUR

T1 - Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2

AU - Salem, Nabeel J M

AU - Hempel, Maja

AU - Heiliger, Katrin-Janine

AU - Hosie, Stuart

AU - Meitinger, Thomas

AU - Oexle, Konrad

N1 - Copyright © 2013 Wiley Periodicals, Inc.

PY - 2013/6

Y1 - 2013/6

N2 - A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.

AB - A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low-set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32-3q26.33 (chr. 3: 178,598,162-182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia.

U2 - 10.1002/ajmg.a.35883

DO - 10.1002/ajmg.a.35883

M3 - SCORING: Journal article

C2 - 23613260

VL - 161A

SP - 1421

EP - 1424

JO - AM J MED GENET A

JF - AM J MED GENET A

SN - 1552-4825

IS - 6

ER -