File:PMC2903524 1750-1172-5-17-3.png

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PMC2903524_1750-1172-5-17-3.png ‎(512 × 341 pixels, file size: 303 KB, MIME type: image/png)

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Attribution 2.0 Generic (CC BY 2.0)

Summary

Author:Rastogi MV, LaFranchi SH,Department of Pediatrics, Division of Endocrinology, Oregon Health & Science University (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC2903524_1750-1172-5-17-3&query=Bamforth%E2%80%93Lazarus%20syndrome&it=xg&req=4&npos=1 Description:F3: Bamforth- Lazarus syndrome. An 8 month old infant with a homozygous mutation in the TTF-2 gene locus leading to congenital hypothyroidism. Phenotypic features include, low set ears, extensive cleft palate, hypertelorism, spiky hair and low posterior hairline. (Taken from; A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate; Human Molecular Genetics, 2002, Vol. 11, No. 17. Courtesy Dr. Michel Polak and the Oxford University Press.)

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Date/TimeThumbnailDimensionsUserComment
current13:23, 12 October 2021Thumbnail for version as of 13:23, 12 October 2021512 × 341 (303 KB)Ozzie10aaaaAuthor:Rastogi MV, LaFranchi SH,Department of Pediatrics, Division of Endocrinology, Oregon Health & Science University (Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC2903524_1750-1172-5-17-3&query=Bamforth%E2%80%93Lazarus%20syndrome&it=xg&req=4&npos=1 Description:F3: Bamforth- Lazarus syndrome. An 8 month old infant with a homozygous mutation in the TTF-2 gene locus leading to congenital hypothyroidism. Phenotypic features include, low set ears, e...

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