Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

V.A. van Rahden; I. Rau; S. Fuchs; F.K. Kosyna; H.L. de Almeida; H. Fryssira; B. Isidor; A. Jauch; M. Joubert; A.M.A. Lachmeijer; C. Zweier; U. Moog; K. Kutsche

doi:10.1186/1750-1172-9-53

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

V.A. van Rahden, I. Rau, S. Fuchs, F.K. Kosyna, H.L. de Almeida, H. Fryssira, B. Isidor, A. Jauch, M. Joubert, A.M.A. Lachmeijer, C. Zweier, U. Moog, K. Kutsche

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Article number	53
Journal	Orphanet Journal of Rare Diseases
Volume	9
DOIs	https://doi.org/10.1186/1750-1172-9-53
Publication status	Published - 2014

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10.1186/1750-1172-9-53

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van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U., & Kutsche, K. (2014). Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Orphanet Journal of Rare Diseases, 9, [53]. https://doi.org/10.1186/1750-1172-9-53

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title = "Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome",

author = "{van Rahden}, V.A. and I. Rau and S. Fuchs and F.K. Kosyna and {de Almeida}, H.L. and H. Fryssira and B. Isidor and A. Jauch and M. Joubert and A.M.A. Lachmeijer and C. Zweier and U. Moog and K. Kutsche",

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van Rahden, VA, Rau, I, Fuchs, S, Kosyna, FK, de Almeida, HL, Fryssira, H, Isidor, B, Jauch, A, Joubert, M, Lachmeijer, AMA, Zweier, C, Moog, U & Kutsche, K 2014, 'Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome', Orphanet Journal of Rare Diseases, vol. 9, 53. https://doi.org/10.1186/1750-1172-9-53

TY - JOUR

T1 - Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

AU - van Rahden, V.A.

AU - Rau, I.

AU - Fuchs, S.

AU - Kosyna, F.K.

AU - de Almeida, H.L.

AU - Fryssira, H.

AU - Isidor, B.

AU - Jauch, A.

AU - Joubert, M.

AU - Lachmeijer, A.M.A.

AU - Zweier, C.

AU - Moog, U.

AU - Kutsche, K.

PY - 2014

Y1 - 2014

U2 - 10.1186/1750-1172-9-53

DO - 10.1186/1750-1172-9-53

M3 - Article

C2 - 24735900

VL - 9

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 53

ER -